All Stories

  1. How to treat dystrophinopathy
  2. Limb–Girdle Muscular Dystrophy D2 TNPO3-Related: A Quality of Life Study
  3. A collection of articles dedicated to energy and metabolism
  4. History of international connections of myology in Europe
  5. ALL ICNMD Congresses in details
  6. The different clinical picture of two siblings affected by rare neutral lipid storage disease
  7. Myofibrillar myopathies are due to mutations in Z-line proteins
  8. Explains the history and status of art in a myopathy frequent in Tunisia
  9. Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients
  10. Risk of stroke in different populations and relatively high altitude habitat
  11. A full account of metabolic myopathy,clinical signs, diagnostic odissea
  12. Distinct Phenotypic and microRNA Expression in X-Linked Charcot–Marie–Tooth Correlated with a Novel Mutation in the GJB1 Gene
  13. Muscles—A New Open Access Journal
  14. A limb-girdle dystrophy due to transportin-3 a nuclear carrier of the HIV virus
  15. Governance of Access in Biobanking: The Case of Telethon Network of Genetic Biobanks
  16. A childhood case of bag-3 myofibrillar myopathy heart transplanted presenting pancreatic tumor
  17. In a patient with limb asymmetry calsequestrin mutation was identified
  19. LIMB-girdle muscular dystrophy D2 and cytokines: A link to HTV1 resistance
  20. LGMD
  21. An updated review on the role of prescribed exercise in the management of Amyotrophic lateral sclerosis
  22. Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome
  23. Exercise, nutrition and enzyme replacement therapy are efficacious in adult Pompe patients: report from EPOC Consortium
  24. ETF dehydrogenase advances in molecular genetics and impact on treatment
  25. Morphological study of TNPO3 and SRSF1 interaction during myogenesis by combining confocal, structured illumination and electron microscopy analysis
  26. Circulating miR-206 as a Biomarker for Patients Affected by Severe Limb Girdle Muscle Dystrophies
  27. Recommendation about going to altitude for people
  28. Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
  29. Assessing diagnosis and managing respiratory and cardiac complications of sarcoglycanopathy
  30. Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1
  31. Diagnostic challenges in metabolic myopathies
  32. MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy
  33. A 5-year clinical follow-up study from the Italian National Registry for FSHD
  34. Transportin 3 (TNPO3) and related proteins in limb girdle muscular dystrophy D2 muscle biopsies: A morphological study and pathogenetic hypothesis
  35. Neuromuscular diseases and Covid-19: Advices from scientific societies and early observations in Italy
  36. Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy
  37. MicroRNAs and HDAC4 protein expression in the skeletal muscle of ALS patients
  38. MyomiRNAs and myostatin as physical rehabilitation biomarkers for myotonic dystrophy
  39. Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies
  40. Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients
  41. Can miR-34a be suitable for monitoring sensorineural hearing loss in patients with mitochondrial disease? A case series
  42. European Federation of the Neurological Societies guidelines on the diagnostic approach to paucisymptomatic or asymptomatic hyperCKemia
  43. MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy
  44. Review: Danon disease: Review of natural history and recent advances
  45. P.88Lipid storage myopathies due to ETFDH and PNPLA2 mutations: MRI and microRNA role as biomarkers
  46. P.28Tracking cognitive changes in DM1 in a 5 year follow-up study
  47. Update on polyglucosan storage diseases
  48. This review explains the revised nomenclature of limb-girdle muscular dystrophies.
  49. MyomiRNAs Dysregulation in ALS Rehabilitation
  50. This is a top review on muscle lipid metabolic disorders
  51. Advances in imaging of brain abnormalities in neuromuscular disease
  52. A new family with transportinopathy: increased clinical heterogeneity
  53. Authors’ reply
  54. Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol
  55. Clinical and genetic characterization of an Italian family with slow-channel syndrome
  56. Regulation of ER-mitochondria contacts by Parkin via Mfn2
  57. Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
  58. Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients
  61. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study
  62. ERRATUM: Effects of combined endurance and resistance training in Amyotrophic Lateral Sclerosis: A pilot, randomized, controlled study
  63. The role of activated microglia and its polarization is presented in CNS disorders
  64. An update on diagnostic options and considerations in limb-girdle dystrophies
  65. Pathogenetic mechanism of limb girdle muscle diseases: an integrated approach
  66. MicroRNAs are appropriate in mitochondrial related hearing loss? Answer to the skepticism
  67. Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
  68. A mobile app for patients with Pompe disease and its possible clinical applications
  69. Enzyme replacement therapy for the treatment of Pompe disease
  70. Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
  71. Effects of combined endurance and resistance training in Amyotrophic Lateral Sclerosis: A pilot, randomized, controlled study
  72. Remodel mitochondria and get energized
  73. Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review
  74. This illustrates a series of neuromuscular and metabolic disorders with patients clinical feature.
  75. Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study
  76. Emery-Dreifuss Muscular Dystrophy Type 4
  77. Danon Disease
  78. Amyotrophic Lateral Sclerosis
  79. Clinical variability in myotonic dystrophy type 1: a five-categories disease classification fits clinical but not brain complexity
  80. Report on nationwide Italian collaborative network for muscle glycogen storage disorders
  81. Micro-RNAs in ALS muscle: Differences in gender, age at onset and disease duration
  82. Limb girdle muscular dystrophies: clinical-genetical diagnostic update and prospects for therapy
  83. ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities
  84. Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function
  85. Revisiting mitochondrial ocular myopathies: a study from the Italian Network
  86. study of biopsies in late onset pompe cases
  87. Erratum to: Muscle MRI in neutral lipid storage disease (NLSD)
  88. Muscle MRI in neutral lipid storage disease (NLSD)
  89. Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients
  90. Presents an expert consensus at the European level of results of ERT in late-onset Pompe disease
  91. Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM
  92. Corrigendum to “Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both” [Neuromuscular Disorders 26/8 (2016) 549]
  93. Cerebral venous thrombosis at high altitude: A systematic review
  94. Elevated Expression of Moesin in Muscular Dystrophies
  95. Metabolites-mitochondria-macrophages (MMM): new therapeutic avenues for inflammation and muscle atrophy
  96. Micro-RNA expression in muscle and fiber morphometry in myotonic dystrophy type 1
  97. Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I
  98. The role of transmission electron microscopy in vacuole-associated myopathies
  99. Study of TFEB and experiments on DAnon and Pompe fibroblasts.
  100. Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
  101. Coverage of pathogenesis and clinical features of alphabet,gamma,delta sarcoglycanopathies.
  102. Study of a cohort of myotonic dystrophy patients with anew FES protocol and aerobic exercise
  103. The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
  104. Review of the state of the art in dysferlin deficient patients.
  105. NMR voxel-based morphometry and functional analysis as neural correlates of neuropsychological dysfunction in DM1
  106. Functional studied in Becker muscular dystrophy.
  107. MicroRNA signatures predict dysregulated vitamin D receptor and calcium pathways status in limb girdle muscle dystrophies (LGMD) 2A/2B
  108. Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both
  109. Lipolysis and lipophagy in lipid storage myopathies
  110. The genetic basis of undiagnosed muscular dystrophies and myopathies
  111. Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results
  112. A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes
  113. Next generation sequencing detection of late onset pompe disease
  114. Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study
  115. “Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network
  116. Challenges and progress in the diagnosis of Congenital Muscular Dystrophies
  117. Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1
  118. Neuromuscular disorders of autoimmune or endocrinological causes are presented.
  119. The most interesting result is that there is a high clinical variability in children. with FSHD1
  120. Circulating microRNAs as biomarkers of muscle differentiation and atrophy in ALS
  121. Diagnosis and discovery in limb-girdle muscular dystrophy
  122. LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing
  123. Reply
  124. Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion
  125. Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy
  126. Are white matters changes in dm1 brain related to anosognosia?
  127. Biomarkers in skeletal muscle rehabilitation in myotonic dystrophy
  128. Familial polyglucosan body myopathy: A clinical spectrum
  129. Investigation of regulatory factors in Lipid Storage Myopathies (LSM) with triglyceride accumulation
  130. Large screening of patients diagnosed as limb girdle muscular dystrophy or congenital myopathy using Motorplex
  131. Longitudinal functional measures in Becker muscular dystrophy: Implications for clinical trials and Duchenne exon skipping outcomes
  132. GYG1gene mutations in a family with polyglucosan body myopathy
  133. [An] enumeration shall be made…
  134. TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy
  135. This paper explains the development of deflazacort now available as Defla from PTC in US and Canada
  136. 208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26–28 September 2014
  137. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations
  138. Incomplete penetrance in limb-girdle muscular dystrophy type 1F
  139. Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings
  140. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls
  141. Inhibition of muscle fibrosis results in increases in both utrophin levels and the number of revertant myofibers in Duchenne muscular dystrophy
  142. Impaired autophagy affects acid α-glucosidase processing and enzyme replacement therapy efficacy in late-onset glycogen storage disease type II
  143. Burden, professional support, and social network in families of children and young adults with muscular dystrophies
  144. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
  145. Spectrum of metabolic myopathies
  146. Redefining phenotypes associated with mitochondrial DNA single deletion
  147. LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
  148. Familial polyglucosan body myopathy with unusual phenotype
  149. Ergebnisse und Empfehlungen des 7th European Hypoxia Symposiums 2014
  150. Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease
  151. Prevention of cardiomyopathy in Duchenne muscular dystrophy
  152. Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure
  153. Erratum: Measurement of the absolute branching fractions forDs−→
  154. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases
  155. Dominant muscular dystrophy with a novelSYNE1gene mutation
  156. Impaired copper and iron metabolism in blood cells and muscles of patients affected by copper deficiency myeloneuropathy
  157. T.P.18
  158. G.O.7
  159. G.P.251
  160. Genotype-phenotype correlation in Pompe disease, a step forward
  161. Skeletal Muscle Satellite Cells in Amyotrophic Lateral Sclerosis
  162. Muscle atrophy, ubiquitin-proteasome, and autophagic pathways in dysferlinopathy
  163. Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants
  164. Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients
  165. CIR-Myo News: Proceedings of the 2014 Spring Padua Muscle Days
  166. Neurologia Clinica
  167. Myoclonus in mitochondrial disorders
  168. Alterations in Notch signalling in skeletal muscles from mdx and dko dystrophic mice and patients with Duchenne muscular dystrophy
  169. Genetic Neuromuscular Disorders
  170. Limb-Girdle Muscular Dystrophy Type 2F
  171. Limb-Girdle Muscular Dystrophy Type 2N
  172. Limb-Girdle Muscular Dystrophy Type 2K
  173. Amyotrophic Lateral Sclerosis Type 1
  174. Ataxia-Telangiectasia, Louis-Bar Syndrome
  175. Glycogenosis Type 3, Cori-Forbes Disease
  176. Niemann-Pick Disease Type C1
  177. Myotonic Dystrophy Type 2, Proximal Myotonic Myopathy
  178. Spastic Ataxia, Charlevoix-Saguenay Type
  179. Multiple Acyl-CoA Dehydrogenase Deficiency
  180. Systemic Primary Carnitine Deficiency
  181. Kearns-Sayre Syndrome
  182. Brody Disease
  183. Limb-Girdle Muscular Dystrophy Type 2C
  184. Charcot-Marie-Tooth Neuropathy with Pyramidal Features
  185. Myotonic Dystrophy Type 1, Steinert Disease
  186. Hereditary Inclusion Body Myopathy Type 2
  187. Autophagy in Natural History and After ERT in Glycogenosis Type II
  188. Limb-Girdle Muscular Dystrophies
  189. Friedreich’s Ataxia
  190. The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
  191. A New Self-Report Quality of Life Questionnaire for Children With Neuromuscular Disorders
  192. “I have got something positive out of this situation”: psychological benefits of caregiving in relatives of young people with muscular dystrophy
  193. Muscle atrophy in Limb Girdle Muscular Dystrophy 2A: a morphometric and molecular study
  194. Erratum: Measurement of theD*(2010)...
  195. Erratum: Measurement of theD*(2010)...
  196. P.5.7 Limb-girdle muscular dystrophy type 2E: Clinical, genetic and histopathological features of 27 European patients
  197. P.17.5 Analysis of motor assessments administered at treatment initiation for patients in the pompe registry
  198. P.5.10 Clinical and ultrastructural changes in transportinopathy
  199. P.12.2 Dominant distal myopathy due to slow channelopathy
  200. P.6.4 Salbutamol tolerability and efficacy in adult type III SMA patients: Results of a multicentric, molecular and clinical, double-blind, placebo-controlled study
  201. Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy
  202. Enzyme Replacement Therapy Improves Respiratory Outcomes in Patients with Late-Onset Type II Glycogenosis and High Ventilator Dependency
  203. Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F
  204. Pilot trial of clenbuterol in spinal and bulbar muscular atrophy
  205. Therapeutic advances in the management of Pompe disease and other metabolic myopathies
  206. Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation
  207. Clinical phenotype, muscle MRI and muscle pathology of LGMD1F
  208. EFNS review on the role of muscle biopsy in the investigation of myalgia
  209. Publisher’s Note: Search for di-muon decays of a low-mass Higgs boson in radiative decays of theΥ(1S...
  210. Erratum: Branching fraction measurements of the color-suppressed decaysB¯0
  211. New treatments for myasthenia: a focus on antisense oligonucleotides
  212. Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy
  213. Autonomic regulation in muscular dystrophy
  214. Disruption of skeletal muscle mitochondrial network genes and miRNAs in amyotrophic lateral sclerosis
  215. Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship
  216. Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT)
  217. Targeted array comparative genomic hybridization – A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes
  218. Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases
  219. Ultrastructural changes in LGMD1F
  220. Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases
  221. Fatigue in muscular dystrophies
  222. Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients
  223. Measuring quality of life impairment in skeletal muscle channelopathies
  224. Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study
  225. S.P.24 24-Hour Holter ECG in type II and III SMA
  226. D.O.3 Next generation sequencing applications are ready for genetic diagnosis of muscular dystrophies
  227. D.P.13 Targeted array CGH analysis of the nebulin gene: Identification of large deletions causing nemaline myopathy
  228. TGFBR2 but not SPP1 genotype modulates osteopontin expression in Duchenne muscular dystrophy muscle
  229. Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy
  230. Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for “double trouble” overlapping syndromes
  231. Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells
  232. The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)
  233. New motor outcome function measures in evaluation of Late‐Onset Pompe disease before and after enzyme replacement therapy
  234. Erratum: Search forCPviolation in the decay
  235. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy
  236. An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the Alps
  237. Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy
  238. Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy
  239. Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies
  240. Publisher’s Note: Observation of the baryonicBdecay
  241. CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis
  242. Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues
  243. Neuromuscular diseases: advances in therapy and diagnosis
  244. Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years
  245. Publisher’s Note: Study of radiative bottomonium transitions using converted photons [Phys. Rev. DPRVDAQ1550-799884, 072002 (2011)]
  246. Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders
  247. Enzyme Replacement Therapy for Pompe Disease
  248. Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency
  249. P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patients
  250. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations
  251. Diagnostic Approach to Pauci- or Asymptomatic hyperCKemia
  252. Parkinson-like features in ALS with predominant upper motor neuron involvement
  253. ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion
  254. Study of Muscle Autophagy and Atrophy Markers in Different Phenotypes of Pompe Disease
  255. Outcome Measures in Juvenile/Adult GSDII Cases
  256. Pompe Disease Diagnosis, Treatment, and Outcomes in Italy: Pompe Disease Registry Data from Italy Compared with the Rest-of-World
  257. Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
  258. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland
  259. Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I
  260. Erratum to: Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies
  261. Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency
  262. Diagnosis and Management of Autoimmune Myasthenia Gravis
  263. A type of Amyotrophic Lateral Sclerosis or Lou Gehrig disease has genetic biomarkers
  264. SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy
  265. Comparison of muscle ultrastructure in myasthenia gravis with anti-MuSK and anti-AChR antibodies
  266. Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele
  267. P2.32 The frequency of myotonic dystrophy type 2 (DM2) and type 1 (DM1) mutations in the population
  268. Retrospective study on PET–SPECT imaging in a large cohort of myotonic dystrophy type 1 patients
  269. Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report
  270. A review of what is known about fatty acids inherited defects
  271. Transcriptional and translational effects of intronic CAPN3 gene mutations
  272. Right hemisphere dysfunction and emotional processing in ALS: an fMRI study
  273. The Role of Ultrastructural Examination in Storage Diseases
  274. Psychopathological features and suicidal ideation in amyotrophic lateral sclerosis patients
  275. Metabolic myopathies: the challenge of new treatments
  276. A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score
  277. Normal myogenesis and increased apoptosis in myotonic dystrophy type-1 muscle cells
  278. EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia
  279. Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases
  280. Subacute sensory ataxia and optic neuropathy with thiamine deficiency
  281. Brain involvement in myotonic dystrophies: neuroimaging and neuropsychological comparative study in DM1 and DM2
  282. MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies
  283. This represents an accurate description of disease course in two main LGMD
  284. Quality of life and motor impairment in ALS: Italian validation of ALSAQ
  285. Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients
  286. Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy
  287. TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis
  288. Cardiomyopathy in a patient with limb-girdle muscular dystrophy type 2D: Pathomorphological aspects
  289. Natural history of upper motor neuron-dominant ALS
  290. G.P.15.08 High genetic variability in European population: The FSHD complex puzzle
  291. G.P.4.07 Skeletal muscle regeneration in amyotrophic lateral sclerosis
  292. G.P.15.09 Unexpected high percentage of asymptomatic subjects carrying the FSHD molecular defect: Which factors contribute to the disease mechanism?
  293. Epidemiology of ALS in Padova district, Italy, from 1992 to 2005
  294. Reliability of the North Star Ambulatory Assessment in a multicentric setting
  295. Carnitine deficiency
  296. TARDBP(TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations
  297. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample
  298. Progress in enzyme replacement therapy in glycogen storage disease type II
  299. Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes
  300. Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy
  301. Sarcolemmal Neuronal Nitric Oxide Synthase Defect in Limb-Girdle Muscular Dystrophy: An Adverse Modulating Factor in the Disease Course?
  302. Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy
  303. Comparative transcriptional and biochemical studies in muscle of myotonic dystrophies (DM1 and DM2)
  304. Emotional Lability in MND: Relationship to cognition and psychopathology and impact on caregivers
  305. Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables
  306. Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR
  307. Transcriptional behavior of DMD gene duplications in DMD/BMD males
  308. Chapter 31 Muscular dystrophy
  309. Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations
  310. TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis
  311. Recent advances and current clinical perspectives in the diagnosis and treatment of glycogenosis type II
  312. How to tackle the diagnosis of limb-girdle muscular dystrophy 2A
  313. Sphingomonas paucimobilis associated with localised calf myositis
  314. D.P.1.02 A robust tool to quantify disability in patients affected by facioscapulohumeral muscular dystrophy
  315. D.P.4.07 In vitro study of DM1 primary myotubes
  316. D.P.1.04 Size and number of D4Z4 alleles play a role in FSHD phenotype
  317. Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2
  318. A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function
  319. Inhibition of Proteasome Activity Promotes the Correct Localization of Disease-Causing α-Sarcoglycan Mutants in HEK-293 Cells Constitutively Expressing β-, γ-, and δ-Sarcoglycan
  320. S9.7 Dominant optic atrophy caused by a novel OPA1 mutation: Disruption of the mitochondrial network with preserved bioenergetics
  321. The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients
  322. Publisher’s Note: Erratum: Measurement of Branching Fractions and Mass Spectra ofB→Kππ
  323. Clinical and genetic characterization of Chanarin–Dorfman syndrome
  324. Amyotrophic Lateral Sclerosis With Ragged-Red Fibers
  325. Cardioembolic stroke in Danon disease
  326. Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency
  327. Muscle histopathology in upper motor neuron-dominant amyotrophic lateral sclerosis
  328. Spinal and bulbar muscular atrophy: Skeletal muscle pathology in male patients and heterozygous females
  329. Nutritional Recommendations for Patients with Glycogen Storage Disease Type II
  330. Dysferlinopathies
  331. Biochemical and ultrastructural evidence of endoplasmic reticulum stress in LGMD2I
  332. Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A
  333. Detection of an unstable non-coding tandem repeat in the ZNF291 gene
  334. M.P.5.06 Protocol for enzyme replacement therapy in late-onset glycogenosis type II (GSDII)
  335. G.P.14.15 Brain involvement in myotonic dystrophy type 2
  336. G.P.15.16 Importance of self-report in pediatric quality of life assessment: Experience with the SOLE questionnaire in children with neuromuscular disorders
  337. G.P.3.07 Intronic conserved non-coding sequences (CNSs) as a tool to detect non-coding RNAs (ncRNAs) and putative regulatory motifs within the dystrophin gene
  338. G.P.8.06 Limb-girdle muscular dystrophies: DNA test following protein test or not?
  339. M.P.4.12 Molecular analysis of the ABHD5 gene in Italian patients with multisystem triglyceride storage disease (Chanarin-Dorfman syndrome)
  340. G.P.7.02 Multicenter study on occurrence of auditory impairment in facioscapulohumeral muscular dystrophy
  341. G.P.15.15 The SOLE questionnaire: Development and validation of a new instrument for measuring quality of life in children with neuromuscular disorders
  342. G.P.4.07 Relation between LGMD2B progression and physical activity
  343. Association Between Human Polymorphic DNA Markers and Hypoxia Adaptation in Sherpa Detected by a Preliminary Genome Scan
  344. In common dystrophy, the hearing was impaired
  345. Late-onset GSDII with novel GAA gene mutation
  346. Myelo-optico-neuropathy in copper deficiency occurring after partial gastrectomy
  347. Activities of mitochondrial complexes correlate with nNOS amount in muscle from ALS patients
  348. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy
  349. Risk Prediction for Clinical Phenotype in Myotonic Dystrophy Type 1: Data from 2,650 Patients
  350. Childhood dermatomyositis associated with intracranial tumor and liver cysts
  351. The role of corticosteroids in muscular dystrophy: A critical appraisal
  352. Disorders of lipid metabolism
  353. Erratum: Dalitz-plot analysis of the decaysB±→K±
  354. Expression profiling characterization of laminin α-2 positive MDC
  355. High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm
  356. Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E
  357. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders
  358. A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres
  359. Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study
  360. Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations
  361. McArdle disease: the mutation spectrum ofPYGMin a large Italian cohort
  362. The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy
  363. Gene Expression Analysis in Myotonic Dystrophy: Indications for a Common Molecular Pathogenic Pathway in DM1 and DM2
  364. Generalized Lysosome-Associated Membrane Protein-2 Defect Explains Multisystem Clinical Involvement and Allows Leukocyte Diagnostic Screening in Danon Disease
  365. Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin-responsive, multiple acyl-CoA dehydrogenase deficiency patient
  366. Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene
  367. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb–MyoD pathways in muscle regeneration
  368. Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1
  369. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
  370. A pilot trial with clenbuterol in amyotrophic lateral sclerosis
  371. Facioscapulohumeral Muscular Dystrophy and Occurrence of Heart Arrhythmia
  372. Clinical and Molecular Characterization of Patients With Limb-Girdle Muscular Dystrophy Type 2I
  373. Co-segregation of LMNA and PMP22 gene mutations in the same family
  374. Decreased expression of DMPK: correlation with CTG repeat expansion and fibre type composition in myotonic dystrophy type 1
  375. Decorin and biglycan expression is differentially altered in several muscular dystrophies
  376. Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes
  377. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition
  378. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
  379. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy
  380. Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures
  381. Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism
  382. A novel out-of-frame mutation in the neurofilament light chain gene ( NEFL) does not result in Charcot-Marie-Tooth disease type 2E
  383. The role of botulinum toxin injection and upper esophageal sphincter myotomy in treating oropharyngeal dysphagia
  384. Correlating phenotype and genotype in the periodic paralyses
  385. Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy
  386. LAMA2loss-of-function mutation in a girl with a mild congenital muscular dystrophy
  387. Large-scale disruption of microtubule pathways in morphologically normal human spastin muscle
  388. Molecular and muscle pathology in a series of caveolinopathy patients
  389. Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?
  390. Motor function-muscle strength relationship in spinal muscular atrophy
  391. Decreased Fatty Acid β-Oxidation in Riboflavin-Responsive, Multiple Acylcoenzyme A Dehydrogenase-Deficient Patients Is Associated with an Increase in Uncoupling Protein-3
  392. Loss of Calpain-3 Autocatalytic Activity in LGMD2A Patients with Normal Protein Expression
  393. Novel spastin mutations and their expression analysis in two Italian families
  394. Role of Gabapentin in Spinal Muscular Atrophy
  395. Acetylcholinesterase activity is affected by stress conditions in Paracentrotus lividus coelomocytes
  396. Novel sarcoglycan gene mutations in a large cohort of Italian patients
  397. LGMD2E patients risk developing dilated cardiomyopathy
  398. Memory deficits and retrieval processes in ALS1
  399. Cerebellar ataxia and coenzyme Q10 deficiency
  400. Phenotype modulators in myophosphorylase deficiency
  401. Clinical and molecular study in congenital muscular dystrophy with partial laminin ?2 (LAMA2) deficiency
  402. Neuromuscular Diseases, Expert Clinicians Views
  403. Gene expression profiling in dysferlinopathies using a dedicated muscle microarray
  404. Muscle pathology in dysferlin deficiency
  405. Investigating the Mechanism of Chromosomal Deletion: Characterization of 39 Deletion Breakpoints in Introns 47 and 48 of the Human Dystrophin Gene
  406. Investigating the Mechanism of Chromosomal Deletion: Characterization of 39 Deletion Breakpoints in Introns 47 and 48 of the Human Dystrophin Gene
  407. Publisher’s Note: Measurement of theB0Lifetime with Partially Reconstructed
  408. Integrin α7β1 in Muscular Dystrophy/Myopathy of Unknown Etiology
  409. Defective assembly of sarcoglycan complex in patients with β-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes
  410. Detection of HTLV-I tax-rex and pol Gene Sequences of Thymus Gland in a Large Group of Patients With Myasthenia Gravis
  411. Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis
  412. Validation of internationally agreed criteria to diagnose Amyotrophic Lateral Sclerosis.
  413. Changes in the ultrastructure and glycoproteins of the cyst wall of Colpoda cucullus during resting encystment
  414. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy
  415. A new mutation in a family with cold-aggravated myotonia disrupts Na+ channel inactivation
  416. Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy
  417. Caspase 3 Expression Correlates With Skeletal Muscle Apoptosis in Duchenne and Facioscapulo Human Muscular Dystrophy. A Potential Target for Pharmacological Treatment?
  418. Heart transplantation in patients with inherited myopathies associated with end-stage cardiomyopathy: molecular and biochemical defects on cardiac and skeletal muscle
  419. Validity of hospital discharge diagnoses for the assessment of the prevalence and incidence of amyotrophic lateral sclerosis
  420. New therapies in muscular dystrophies
  421. Neuromuscular damage after hyperthermic isolated limb perfusion in patients with melanoma or sarcoma treated with chemotherapeutic agents
  422. Correlation of clinical function and muscle CT scan images in limb-girdle muscular dystrophy
  423. A novel laminin  2 isoform in severe laminin  2 deficient congenital muscular dystrophy
  424. Hereditary spastic paraplegia associated with peripheral neuropathy: a distinct clinical and genetic entity
  425. Acute Quadriplegic Myopathy in a 17-Month-Old Boy
  426. A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy
  427. Private ?- and ?-sarcoglycan gene mutations: Evidence of a founder effect in Northern Italy
  428. Riboflavin therapy
  429. A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV
  430. Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients
  431. Could Utrophin Rescue the Myocardium of Patients with Dystrophin Gene Mutations?
  432. Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro
  433. Prenatal diagnosis in a family affected with β-sarcoglycan muscular dystrophy
  434. Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression
  435. Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients
  436. Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins
  437. Heart involvement in muscular dystrophies due to sarcoglycan gene mutations
  438. Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy
  439. Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population
  440. The clinical spectrum of sarcoglycanopathies
  441. Cardiac transplantation in a Duchenne muscular dystrophy carrier
  442. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
  443. Steroids in muscular dystrophy: where do we stand?
  444. Laminin  2 muscular dystrophy: Genotype/phenotype studies of 22 patients
  445. Homozygous ?-sarcoglycan mutation in two siblings: One asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient
  446. Radiological evidence of subclinical dysphagia in motor neuron disease
  447. Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients
  448. Congenital Muscular Dystrophy with Partial Merosin Deficiency and Late Onset Epilepsy
  449. Mutations of the same sequence of the myelin P0 gene causing two different phenotypes
  450. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.
  451. Increased aldosterone levels in acute mountain sickness at Capanna Regina Margherita
  452. Long-term cyclosporine treatment in a group of severe myasthenia gravis patients
  453. Changes in skeletal muscle histology and metabolism in patients undergoing exercise deconditioning: Effect of propionyl-L-carnitine
  454. RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.
  455. Mutations in the Sarcoglycan Genes in Patients with Myopathy
  456. Genotype-phenotype correlations of DHP receptor α1-subunit gene mutations causing hypokalemic periodic paralysis
  457. Novel mutations and polymorphisms in the human dystrophin gene detected by double-strand conformation analysis
  458. Novel mutations and polymorphisms in the human dystrophin gene detected by double‐strand conformation analysis
  459. Myocardial Involvement Is Very Frequent Among Patients Affected With Subclinical Becker's Muscular Dystrophy
  460. Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats
  461. Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy
  462. Myotonia and the muscle chloride channel: Dominant mutations show variable penetrance and founder effect
  463. Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy
  464. Esophageal motor function in patients with myotonic dystrophy
  465. Prognostic factors in mild dystrophinopathies
  466. Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size?
  467. α-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations
  468. Discordant clinical outcome in type III spinal muscular atrophy sibships showing the same deletion pattern
  469. Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy
  470. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy
  471. Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia
  472. X‐inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X‐linked determinant
  473. X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant
  474. A Point Mutation in the 5' Splice Site of the Dystrophin Gene First Intron Responsible for X-Linked Dilated Cardiomyopathy
  475. Skeletal muscle sarcoplasmic reticulum phenotype in myotonic dystrophy
  476. Clinical and hormonal aspects of male hypogonadism in myotonic dystrophy
  477. Correction: Corrigendum: β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
  478. Hereditary protein C deficiency associated with riboflavin-responsive lipid storage myopathy
  479. Motor Neuron Disease in the Padua District of Italy: An Epidemiological Study
  480. β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
  481. Dystrophin-positive fibers in duchenne dystrophy: Origin and correlation to clinical course
  482. Survival Motor-Neuron Gene Transcript Analysis in Muscles from Spinal Muscular-Atrophy Patients
  483. Audit of care of acute inflammatory polyradiculoneuropathy in Italy
  484. MtDNA Mutations Associated with Leber′s Hereditary Optic Neuropathy: Studies on Cytoplasmic Hybrid (Cybrid) Cells
  485. Prevalence of unsuspected myopathy in infants presenting for clubfoot surgery
  486. Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: Evidence for failure of dystrophin production in dystrophin-competent myonuclei
  487. Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.
  488. Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats
  489. Prenatal diagnosis in congenital muscular dystrophy
  490. Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm
  491. Correlation between cardiac involvement and CTG trinucleotide repeat length in myotonic dystrophy
  492. Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy
  493. Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation
  494. Divergence of Central Nervous System Involvement in 2 Italian Sisters with Congenital Muscular Dystrophy: A Clinical and Neuroradiological Follow-Up
  495. Frequency of Duplication at 17p11.2 in Families of Northeast Italy with Charcot-Marie-Tooth Disease Type 1
  496. Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.
  497. A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intron
  498. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: Characterization of sub-clinical phenotypes
  499. Deflazacort in Duchenne dystrophy: Study of long-term effect
  500. Preface
  501. Prevalent cardiac involvement in dystrophin Becker type mutation
  502. Male Hypogonadism in Myotonic Dystrophy is Related to (Ctg)N Triplet Mutation
  503. Absence of dystrophin and spectrin in regenerating muscle fibers from Becker dystrophy patients
  504. Deflazacort in Duchenne dystrophy: Study of long-term effect
  505. Occurrence of two different intragenic deletions in two male relatives affected with Duchenne muscular dystrophy
  506. Single Muscle Fibre Analyses in 2 Brothers with Succinate Dehydrogenase Deficiency
  507. Cardiac involvement in becker muscular dystrophy
  508. Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency.
  509. (CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients
  510. Multifactorial study of inflammatory myopathies. Report of 29 cases
  511. Dystrophin-positive myotubes in innervated muscle cultures from Duchenne and Becker muscular dystrophy patients
  512. Reappraisal of the Incidence Rate of Duchenne and Becker Muscular Dystrophies on the Basis of Molecular Diagnosis
  513. Correlation between clinical and molecular features in two MELAS families
  514. Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia)
  515. MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.
  516. Dystrophinopathy in isolated cases of myopathy in females
  517. MELAS: Clinical features, biochemistry, and molecular genetics
  518. Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.
  519. Cognitive and psychiatric evaluation of 40 patients with myotonic dystrophy
  520. Clinical and Biochemical Aspects of Carnitine Deficiency and Insufficiency: Transport Defects and Inborn Errors of β-Oxidation
  521. Prevalence of dystrophin-positive fibers in 85 duchenne muscular dystrophy patients
  522. Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy
  523. Epidemiology of Spinal Muscular Atrophies in a Sample of the Italian Population
  524. l-Carnitine uptake in differentiating human cultured muscle
  525. Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of duchenne muscular dystrophy
  526. Muscle carnitine deficiency in patients with severe peripheral vascular disease.
  527. Congenital muscular dystrophy: brain alterations in an unselected series of Western patients.
  529. Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial
  530. A multicentre follow-up study of 1152 patients with myasthenia gravis in Italy
  531. 7 Defects of fatty-acid oxidation in muscle
  532. Enormous dystrophin in a patient with Becker muscular dystrophy
  533. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q
  534. Liver fatty acid-binding protein in two cases of human lipid storage
  535. Serum Lipids, Lipoprotein Analysis and Apoprotein A-I, A-II and B Levels in Friedreich’s Ataxia
  536. Intellectual Impairment and Cognitive Evoked Potentials in Myotonic Dystrophy
  537. Type 1 fiber abnormalities in skeletal muscle of patients with hypertrophic and dilated cardiomyopathy: Evidence of subclinical myogenic myopathy
  539. Improved diagnosis of Becker muscular dystrophy by dystrophin testing
  540. Muscle glycerol kinase in Duchenne dystrophy and glycerol kinase deficiency
  541. The role of life events in the myasthenia gravis outcome: a one-year longitudinal study
  542. Myosin heavy chain composition of muscle fibers in spinal muscular atrophy
  543. Increases in walking distance in patients with peripheral vascular disease treated with L-carnitine: a double-blind, cross-over study.
  544. Psychiatric disturbances associated with myasthenia gravis
  545. The natural history of cardiac involvement in myotonic dystrophy: An eight-year follow-up in 17 patients
  546. Glucose and ketone body turnover in carnitine-palmitoyl-transferase deficiency
  547. Exercise-induced recurrent myoglobinuria: Defective activity of inner carnitine palmitoyltransferase in muscle mitochondria of two patients
  548. Population data on benign and severe forms of X-linked muscular dystrophy
  549. Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency
  550. Friedreich's disease: V. Variant form with vitamin E deficiency and normal fat absorption
  551. Genetic epidemiology of myotonic dystrophy
  552. Myotonic dystrophy and chromosome translocation segregating in the same family
  553. Toxic myopathy induced by industrial minerals oils: Clinical and histopathological features
  554. Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment
  555. Malonyl-CoA Abnormal Inhibition of Residual Enzyme Activity in Carnitine Palmitoyltransferase Deficiency
  556. Sensory, Motor, and Autonomic Neuropathy in Patients with Multiple Symmetric Lipomatosis
  557. Carnitine deficiency, organic acidemias, and Reye's syndrome
  558. Familial neuromuscular disease with tubular aggregates
  559. Tubular aggregates: Sarcoplasmic reticulum origin, calcium storage ability, and functional implications
  560. Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatment
  561. Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: Studies with malonyl-CoA suggest absence of only CPT-II
  562. Incidence and Risk Factors of Motor Neuron Disease in the Venice and Padua Districts of Italy, 1972–1979
  563. Carnitine, carnitine acyltransferases, and rat brain function
  564. Autoimmune neuromuscular disease induced by a preparation of choline acetyltransferase
  565. Peroneal muscular atrophy with ataxia and partial myoclonic epilepsy
  566. Carnitine deficiency induced during hemodialysis and hyperlipidemia: effect of replacement therapy
  567. Carnitine palmityl transferase deficiency: Clinical variability, carrier detection, and autosomal-recessive inheritance
  568. Myopathological Findings in Progressive Myoclonus Epilepsy
  569. Systemic Carnitine Deficiency — A Treatable Inherited Lipid-Storage Disease Presenting as Reye's Syndrome
  570. Plasma and Urine Carnitine Levels During Development
  571. Abnormal myomuscular junctions and AChE in a congenital neuromuscular disease
  572. Duchenne muscular dystrophy
  573. Free and acyl-carnitines in human milk and colostrum: 89
  574. Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation
  575. Assessment of the value of thymic scan in myasthenia gravis
  576. Carnitine deficiency: Acute postpartum crisis
  578. Duchenne muscular dystrophy
  580. Carnitine deficiency of skeletal muscle: Report of a treated case
  582. Lipid storage myopathies
  584. Geographic distribution of hereditary myopathies in northeast Italy
  585. Mitochondria-Lipid-Glycogen (MLG) Disease of Muscle
  586. Subcellular distribution of acid and neutral α-glucosidases in normal, acid maltose deficient, and myophosphorylase deficient human skeletal muscle
  587. Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome
  588. Adult Acid Maltase Deficiency
  589. Comparative Study of Acid Maltase Deficiency
  590. Developmental patterns of LDH isozymes in fast and slow muscles of the rat
  591. Early ultrastructural and biochemical changes in muscle in dystrophia myotonica
  592. Enzymes of the glycogen cycle and glycolysis in various human neuromuscular disorders.