All Stories

  1. A unique electro-contact-free sensing for illegal drug methamphetamine determination by electrochemiluminescence based on wireless power transmission technology

    Article • Sensors and Actuators B Chemical, November 2024, Elsevier

    Dr Katsuya Nakamura

  2. HTRA1-related cerebral small-vessel disease causes cerebral microbleeds on the brainstem surface

    Article • Journal of the Neurological Sciences, November 2024, Elsevier

    Dr Katsuya Nakamura

  3. Clinical genetic approaches to the management of patients with myotonic dystrophy type 1 and their families

    Article • Developmental Medicine & Child Neurology, October 2024, Wiley

    Dr Katsuya Nakamura

  4. Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population

    Article • Frontiers in Neuroscience, July 2024, Frontiers

    Dr Katsuya Nakamura

  5. Genetic counselling for at-risk family members with hereditary transthyretin amyloidosis: data from a single-centre study

    Article • Amyloid, May 2024, Taylor & Francis

    Dr Katsuya Nakamura

  6. Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an <i>ATP1A1</i> Variant

    Article • Internal Medicine, April 2024, Japanese Society of Internal Medicine

    Dr Katsuya Nakamura

  7. Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman

    Article • JIMD Reports, September 2023, Wiley

    Dr Katsuya Nakamura

  8. Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease

    Article • Molecular Genetics and Metabolism Reports, September 2023, Elsevier

    Dr Katsuya Nakamura

  9. Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic <i>de novo</i> Missense Variant in <i>KIF1A</i>

    Article • Internal Medicine, January 2023, Japanese Society of Internal Medicine

    Dr Katsuya Nakamura

  10. Tongue Hemiatrophy in Multifocal Motor Neuropathy

    Article • Internal Medicine, January 2023, Japanese Society of Internal Medicine

    Dr Katsuya Nakamura

  11. Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant ofHTRA1

    Article • Neurology Genetics, December 2022, Wolters Kluwer Health

    Dr Katsuya Nakamura

  12. Clinical Features and Neuroimaging Findings of Neuropil Antibody–Positive Idiopathic Sporadic Ataxia of Unknown Etiology

    Article • The Cerebellum, September 2022, Springer Science + Business Media

    Dr Katsuya Nakamura

  13. Moyamoya Disease-like Cerebrovascular Stenotic Lesions Are an Important Phenotype of POEMS Syndrome-associated Vasculopathy

    Article • Internal Medicine, May 2022, Japanese Society of Internal Medicine

    Dr Katsuya Nakamura

  14. National survey of presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases—system development for after the establishment of therapies—

    Article • Rinsho Shinkeigaku, January 2022, Societas Neurologica Japonica

    Dr Katsuya Nakamura

  15. Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis

    Article • American Journal of Medical Genetics Part A, April 2021, Wiley

    Dr Katsuya Nakamura

  16. Late-onset Hereditary ATTR Amyloidosis with a Novel p.P63S (P43S) <i>Transthyretin</i> Variant

    Article • Internal Medicine, February 2021, Japanese Society of Internal Medicine

    Dr Katsuya Nakamura

  17. Genetic counseling and predictive testing for hereditary neuromuscular diseases

    Article • Rinsho Shinkeigaku, January 2021, Societas Neurologica Japonica

    Dr Katsuya Nakamura

  18. A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the <i>CYP27A1</i> Gene

    Article • Internal Medicine, October 2020, Japanese Society of Internal Medicine

    Dr Katsuya Nakamura

  19. Elderly patient with 5q spinal muscular atrophy type 4 markedly improved by Nusinersen

    Article • Journal of the Neurological Sciences, August 2020, Elsevier

    Dr Katsuya Nakamura

  20. Intrafamilial phenotypic variation in spinocerebellar ataxia type 23

    Article • Cerebellum & Ataxias, June 2020, Springer Science + Business Media

    Dr Katsuya Nakamura

  21. Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model

    Article • Neuron, February 2020, Elsevier

    Dr Katsuya Nakamura

  22. Factors predictive of the presence of a CSF1R mutation in patients with leukoencephalopathy

    Article • European Journal of Neurology, October 2019, Wiley

    Dr Katsuya Nakamura

  23. A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia

    Article • Journal of the Neurological Sciences, April 2019, Elsevier

    Dr Katsuya Nakamura

  24. Idiopathic cerebellar ataxia (IDCA): Diagnostic criteria and clinical analyses of 63 Japanese patients

    Article • Journal of the Neurological Sciences, January 2018, Elsevier

    Dr Katsuya Nakamura

  25. A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8

    Article • Human Genome Variation, October 2017, Nature

    Dr Katsuya Nakamura

  26. Inter-generational instability of inserted repeats during transmission in spinocerebellar ataxia type 31

    Article • Journal of Human Genetics, June 2017, Nature

    Dr Katsuya Nakamura

  27. Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients

    Article • Journal of Human Genetics, March 2017, Nature

    Dr Katsuya Nakamura

  28. Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study

    Article • The Cerebellum, November 2016, Springer Science + Business Media

    Dr Katsuya Nakamura

  29. Hypertrophic Pachymeningitis as an Early Manifestation of Relapsing Polychondritis: Case Report and Review of the Literature

    Article • Case Reports in Neurology, October 2016, Karger Publishers

    Dr Katsuya Nakamura

  30. Clinical assessment of standing and gait in ataxic patients using a triaxial accelerometer

    Article • Cerebellum & Ataxias, August 2015, Springer Science + Business Media

    Dr Katsuya Nakamura

  31. Response to Satomuraet al.

    Article • European Journal of Neurology, July 2014, Wiley

    Dr Katsuya Nakamura

  32. Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

    Article • Journal of Neurology Neurosurgery & Psychiatry, February 2014, BMJ

    Dr Katsuya Nakamura

  33. A Case Report of WEBINO Syndrome with Convergence Impairment

    Article • Journal of Neurology & Neurophysiology, January 2014, OMICS Publishing Group

    Dr Katsuya Nakamura

  34. Triple a syndrome in Japan

    Article • Muscle & Nerve, July 2013, Wiley

    Dr Katsuya Nakamura

  35. p.E66Q mutation in theGLAgene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males

    Article • European Journal of Neurology, May 2013, Wiley

    Dr Katsuya Nakamura

  36. Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the NEU1 Gene

    Article • Internal Medicine, January 2013, Japanese Society of Internal Medicine

    Dr Katsuya Nakamura

  37. A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea

    Article • Journal of the Neurological Sciences, February 2012, Elsevier

    Dr Katsuya Nakamura

  38. Adult or late-onset triple A syndrome

    Article • Journal of the Neurological Sciences, October 2010, Elsevier

    Dr Katsuya Nakamura

  39. Cerebral hemorrhage in Fabry's disease

    Article • Journal of Human Genetics, March 2010, Nature

    Dr Katsuya Nakamura

  40. A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)

    Article • Journal of Human Genetics, November 2009, Nature

    Dr Katsuya Nakamura

  41. Spinocerebellar ataxia type 6 (SCA6): Clinical pilot trial with gabapentin

    Article • Journal of the Neurological Sciences, March 2009, Elsevier

    Dr Katsuya Nakamura

  42. Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan

    Article • The Cerebellum, October 2008, Springer Science + Business Media

    Dr Katsuya Nakamura