M. Namekawa

发表

A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)

S. Tsuji, H. Shimazaki, Y. Fukuda, 2012, Journal of Medical Genetics.

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

S. Tsuji, Kunihiro Yoshida, S. Ikeda, 2014, Journal of Neurology, Neurosurgery & Psychiatry.

Identification of GFAP gene mutation in hereditary adult‐onset Alexander's disease

H. Shimazaki, Y. Matsubara, Y. Aoki, 2002, Annals of neurology.

16q-linked autosomal dominant cerebellar ataxia: A clinical and genetic study

H. Shimazaki, T. Amino, H. Mizusawa, 2006, Journal of the Neurological Sciences.

Atlastin‐1, the dynamin‐like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum

M. Ruberg, A. Brice, M. Muriel, 2009, Journal of neurochemistry.

A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene

M. Ruberg, A. Dürr, P. Ribai, 2006, Neurogenetics.

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations

S. Tsuji, H. Shimazaki, M. Nishizawa, 2002, Neurology.

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis

S. Tsujino, Tomokatsu Yoshida, M. Nakagawa, 2011, Journal of Neurology.

Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature

H. Shimazaki, Y. Takiyama, K. Sakoe, 2010, BMC neurology.

The gene responsible for hereditary spastic paraplegia SPG3A encodes atlastin-1 (ATL), a dynamin-like GTPase

M. Ruberg, A. Brice, M. Muriel, 2009 .

Paraneoplastic cerebellar degeneration associated with an onconeural antibody against creatine kinase, brain-type

E. Sakashita, T. Hamamoto, H. Endo, 2013, Journal of the Neurological Sciences.

A Japanese SPG4 family with a novel missense mutation of the SPG4 gene: intrafamilial variability in age at onset and clinical severity

H. Shimazaki, M. Nishizawa, Y. Takiyama, 2002, Acta neurologica Scandinavica.

A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study

H. Shimazaki, M. Nishizawa, Y. Takiyama, 2001, Journal of the Neurological Sciences.

Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability.

S. Tsuji, M. Nishizawa, Y. Takiyama, 1997, Human molecular genetics.

Whole‐exome sequencing reveals a missense mutation in the KCND3 gene in a patient with SCA19/22

Y. Takiyama, M. Namekawa, Ying Wang, 2015 .

Unique combination of hyperintense vessel sign on initial FLAIR and delayed vasoconstriction on MRA in reversible cerebral vasoconstriction syndrome: A case report

H. Shimazaki, M. Namekawa, I. Nakano, 2014, Cephalalgia : an international journal of headache.

Cortical involvement in Marchiafava-Bignami disease can be a predictor of a poor prognosis: a case report and review of the literature.

M. Namekawa, I. Nakano, Yuko Nakamura, 2013, Internal medicine.

A case of acute spinal subdural hematoma with subarachnoid hemorrhage: Rapid spontaneous remission, relapse, and complete resolution

M. Namekawa, S. Kondo, 2017 .

Segmental zoster paresis of the right shoulder.

M. Namekawa, A. Kumabe, Tomoaki Kameda, 2013, Internal medicine.

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)

S. Klebe, M. Ruberg, A. Durr, 2005, Annals of neurology.

Sonographic detection of diffuse peripheral nerve hypertrophy in chronic inflammatory demyelinating polyradiculoneuropathy

Yi Wang, K. Itoh, N. Taniguchi, 2000, Journal of clinical ultrasound : JCU.

[Diagnosis of intravascular lymphoma: usefulness of random skin biopsies].

M. Namekawa, I. Nakano, 2011, Brain and nerve = Shinkei kenkyu no shinpo.

Subacute autonomic and sensory neuropathy closely related to cytomegalovirus infection preceded by frequent syncopal attacks.

M. Namekawa, I. Nakano, S. Kondo, 2016, Rinsho shinkeigaku = Clinical neurology.

"Hot cross bun" sign associated with SCA1.

H. Shimazaki, M. Namekawa, J. Honda, 2015, Internal medicine.

Middle Cerebellar Peduncles and Pontine T2 Hypointensities in ARSACS

H. Shimazaki, M. Baba, Y. Takiyama, 2013, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

Edoxaban for Cerebral Venous Thrombosis Associated with Ulcerative Colitis: A Case Report

M. Namekawa, Y. Sakiyama, H. Sanayama, 2020, Surgery for Cerebral Stroke.

Identification of a SACS gene missense mutation in ARSACS

H. Shimazaki, M. Nishizawa, Y. Takiyama, 2004, Neurology.

Parkinsonism as an initial manifestation of rheumatoid meningitis

M. Namekawa, I. Nakano, E. Watanabe, 2014, Neurological Sciences.

A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy

H. Shimazaki, Y. Takiyama, K. Sakoe, 2011, Neurological Sciences.

A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP

H. Osaka, Ayumi Matsumoto, M. Namekawa, 2018, Brain and Development.

Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement

M. Namekawa, Y. Wada, C. Yanagihara, 2013, Journal of the Neurological Sciences.

Choreiform movements in spinocerebellar ataxia type 1

S. Muramatsu, M. Nishizawa, Y. Takiyama, 2001, Journal of the Neurological Sciences.

A case of sporadic adult Alexander disease presenting with acute onset, remission and relapse

M. Namekawa, T. Ayaki, Miho Shinohara, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene

H. Mizusawa, M. Nishizawa, Y. Takiyama, 1998, Journal of the Neurological Sciences.

Mandibuloptosis as a cause of supine choking in a patient with amyotrophic lateral sclerosis

M. Namekawa, I. Nakano, Hiroto Ito, 2012, Journal of Neurology.

[Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene].

T. Ohtsuki, T. Kohriyama, Tetsuya Takahashi, 2009, Rinshō shinkeigaku Clinical neurology.

Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis

M. Ruberg, C. Duyckaerts, C. Depienne, 2007, Molecular and Cellular Neuroscience.

Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families

H. Shimazaki, M. Nishizawa, Y. Takiyama, 2001, Journal of the Neurological Sciences.

SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years

M. Ruberg, A. Dürr, P. Ribai, 2006, Neurology.