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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society of Internal Medicine
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794182/ https://www.ncbi.nlm.nih.gov/pubmed/31178479 http://dx.doi.org/10.2169/internalmedicine.2126-18 |
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