Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease

A 24-year-old Japanese man exhibited slowly progressive gait disturbance from childhood to young adulthood. Physical and physiological examinations showed the involvement of both upper and lower motor neurons, fulfilling the diagnostic criteria for amyotrophic lateral sclerosis (ALS). Mild cognitive...

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Detaylı Bibliyografya
Yayımlandı:Intern Med
Asıl Yazarlar: Yamaura, Genpei, Higashiyama, Yuichi, Kusama, Kaori, Kunii, Misako, Tanaka, Kenichi, Koyano, Shigeru, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Iwahashi, Yukiko, Joki, Hideto, Matsumoto, Naomichi, Doi, Hiroshi, Tanaka, Fumiaki
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Japanese Society of Internal Medicine 2019
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6794182/
https://ncbi.nlm.nih.gov/pubmed/31178479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.2126-18
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