Lista de obras - Ryosuke Miyamoto - Dominio Público Uruguay

An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP43 proteinopathy

artículo científico publicado en 2021

Broad spectrum of dystonia associated with a novel thanatosis‐associated protein domain‐containing apoptosis‐associated protein 1 mutation in a Japanese family with dystonia 6, torsion ⬇️

artículo científico publicado el 20 de julio de 2012

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease ⬇️

artículo científico publicado el 16 de enero de 2013

Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report

artículo científico publicado en 2019

DYT6 in Japan-genetic screening and clinical characteristics of the patients.

artículo científico publicado en 2013

Dystonia and Cerebellum: From Bench to Bedside

artículo científico publicado en 2021

Efficacy of Istradefylline for the Treatment of ADCY5-Related Disease

artículo científico publicado en 2020

Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.

artículo científico publicado en 2013

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

artículo científico publicado en 2014

Generalized dystonia in a patient with a novel mutation in the GLUD1 gene ⬇️

artículo científico publicado el 21 de junio de 2012

Hung-up Knee Jerk in Huntington's Disease

artículo científico publicado en 2020

Oromandibular dystonia associated with SCA36.

artículo científico publicado en 2013

Slow Mandibulo-Faciolingual Wiggling Tremor Associated with Japanese Encephalitis

scientific article published on 28 July 2014

Treatment of Isolated Dystonia with Zolpidem

scientific article published on 18 December 2015

[Clinical features of tetanus: a review with case reports]

scientific article published on 01 October 2011

[Dystonia genes and elucidation of their roles in dystonia pathogenesis]

artículo científico publicado en 2013

Lista de obras de Ryosuke Miyamoto

An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP43 proteinopathy

Broad spectrum of dystonia associated with a novel thanatosis‐associated protein domain‐containing apoptosis‐associated protein 1 mutation in a Japanese family with dystonia 6, torsion ⬇️

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease ⬇️

Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report

DYT6 in Japan-genetic screening and clinical characteristics of the patients.

Dystonia and Cerebellum: From Bench to Bedside

Efficacy of Istradefylline for the Treatment of ADCY5-Related Disease

Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia.

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

Generalized dystonia in a patient with a novel mutation in the GLUD1 gene ⬇️

Hung-up Knee Jerk in Huntington's Disease

Oromandibular dystonia associated with SCA36.

Slow Mandibulo-Faciolingual Wiggling Tremor Associated with Japanese Encephalitis

Treatment of Isolated Dystonia with Zolpidem

[Clinical features of tetanus: a review with case reports]

[Dystonia genes and elucidation of their roles in dystonia pathogenesis]