Missense mutants inactivate guanosine triphosphate cyclohydrolase I in hereditary progressive dystoniaUENO, Satoshi; HIRANO, Makito.Brain & development (Tokyo. 1979). 2000, Vol 22, pp S111-S114, issn 0387-7604, SUP1Conference Paper

Effect of humanin on decreased ATP levels of human lymphocytes harboring A3243G mutant mitochondrial DNAKARIYA, Shingo; HIRANO, Makito; FURIYA, Yoshiko et al.Neuropeptides (Edinburgh). 2005, Vol 39, Num 2, pp 97-101, issn 0143-4179, 5 p.Article

Odor abnormalities caused by bilateral thalamic infarctionASAI, Hirohide; UDAKA, Fukashi; HIRANO, Makito et al.Clinical neurology and neurosurgery. 2008, Vol 110, Num 5, pp 500-501, issn 0303-8467, 2 p.Article

White matter T2 hyperintensity development and clinical deterioration after status epilepticus in a patient with dentatorubral-pallidoluysian atrophyTAKAMURE, Miwa; HIRANO, Makito; TAOKA, Toshiaki et al.Clinical neurology and neurosurgery. 2006, Vol 108, Num 5, pp 482-485, issn 0303-8467, 4 p.Article

Lack of association between polymorphic microsatellites of the VMAT2 gene and parkinson's disease in JapanKARIYA, Shingo; HIRANO, Makito; TAKAHASHI, Nobuyuki et al.Journal of the neurological sciences. 2005, Vol 232, Num 1-2, pp 91-94, issn 0022-510X, 4 p.Article

Risks of Inappropriate Secretion of Antidiuretic Hormone in Multiple System AtrophySAMUKAWA, Makoto; HIRANO, Makito; SAKAMOTO, Hiraku et al.Movement disorders. 2011, Vol 26, Num 14, pp 2572-2573, issn 0885-3185, 2 p.Article

COMPLETE RECOVERY OF AN AGED PATIENT WITH GUILLAIN-BARRÉ SYNDROME ASSOCIATED WITH MULTIPLE IgM ANTI-GANGLIOSIDE ANTIBODIESFURIYA, Yoshiko; HIRANO, Makito; KUSUNOKI, Susumu et al.Muscle & nerve. 2008, Vol 38, Num 6, pp 1630-1633, issn 0148-639X, 4 p.Article

SPECT revealed cortical dysfunction in a patient who had genetically definite megalencephalic leukoencephalopathy with subcortical cystsKIRIYAMA, Takao; TANIZAWA, Emi; HIRANO, Makito et al.Clinical neurology and neurosurgery. 2007, Vol 109, Num 6, pp 526-530, issn 0303-8467, 5 p.Article

α-1-Antichymotrypsin gene polymorphism and susceptibility to multiple system atrophy (MSA)FURIYA, Yoshiko; HIRANO, Makito; KURUMATANI, Norio et al.Molecular brain research. 2005, Vol 138, Num 2, pp 178-181, issn 0169-328X, 4 p.Article

A case of chemotherapy-responsive paraneoplastic rubral tremorKIRIYAMA, Takao; HIRANO, Makito; KITAUCHI, Takanori et al.Clinical neurology and neurosurgery (Dutch-Flemish ed.). 2011, Vol 113, Num 8, pp 693-695, issn 0303-8467, 3 p.Article

Interferon causes no myasthenia in a seropositive patient with multiple sclerosisSHIMIZU, Hisao; KATAOKA, Hiroshi; KAWAHARA, Makoto et al.Clinical neurology and neurosurgery. 2007, Vol 109, Num 3, pp 277-278, issn 0303-8467, 2 p.Article

Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemiaHIRANO, Makito; NISHIWAKI, Tomohisa; KARIYA, Shingo et al.Neuroscience letters. 2004, Vol 366, Num 2, pp 120-125, issn 0304-3940, 6 p.Article

Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosisHIRANO, Makito; NAKAMURA, Yusaku; SAIGOH, Kazumasa et al.Neurology. 2013, Vol 80, Num 5, pp 458-463, issn 0028-3878, 6 p.Article

Cytoprotective effect of novel histone deacetylase inhibitors against polyglutamine toxicityKARIYA, Shingo; HIRANO, Makito; UESATO, Shinichi et al.Neuroscience letters. 2006, Vol 392, Num 3, pp 213-215, issn 0304-3940, 3 p.Article

Protein kinase Cγ, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxinASAI, Hirohide; HIRANO, Makito; UDAKA, Fukashi et al.Human molecular genetics (Print). 2009, Vol 18, Num 19, pp 3533-3543, issn 0964-6906, 11 p.Article

A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysisHIRANO, Makito; KOKUNAI, Yosuke; NAGAI, Asami et al.Journal of the neurological sciences. 2011, Vol 309, Num 1-2, pp 9-11, issn 0022-510X, 3 p.Article

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementiaDENG, Han-Xiang; CHEN, Wenjie; HUJUN JIANG et al.Nature (London). 2011, Vol 477, Num 7363, pp 211-215, issn 0028-0836, 5 p.Article

Treatable fluctuating mental impairment in a patient with Bardet-Biedl syndromeTONOMURA, Yasuyo; HIRANO, Makito; SHIMADA, Keiji et al.Clinical neurology and neurosurgery (Dutch-Flemish ed.). 2009, Vol 111, Num 1, pp 102-104, issn 0303-8467, 3 p.Article

Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patientsNISHIWAKI, Tomohisa; KOBAYASHI, Nobuhiko; MORI, Toshio et al.DNA repair. 2008, Vol 7, Num 12, pp 1990-1998, issn 1568-7864, 9 p.Article

Sympathetic disturbances increase risk of sudden cardiac arrest in sporadic ALSASAI, Hirohide; HIRANO, Makito; MATSUMOTO, Sadayuki et al.Journal of the neurological sciences. 2007, Vol 254, Num 1-2, pp 78-83, issn 0022-510X, 6 p.Article

Cerebrospinal fluid-orexin levels and sleep attacks in four patients with Parkinson's diseaseASAI, Hirohide; HIRANO, Makito; FURIYA, Yoshiko et al.Clinical neurology and neurosurgery (Dutch-Flemish ed.). 2009, Vol 111, Num 4, pp 341-344, issn 0303-8467, 4 p.Article

DNA single-strand break repair is impaired in aprataxin-related ataxiaHIRANO, Makito; YAMAMOTO, Aya; YASUI, Akira et al.Annals of neurology. 2007, Vol 61, Num 2, pp 162-174, issn 0364-5134, 13 p.Article

Short half-lives of ataxia-associated aprataxin proteins in neuronal cellsHIRANO, Makito; ASAI, Hirohide; KIRIYAMA, Takao et al.Neuroscience letters. 2007, Vol 419, Num 2, pp 184-187, issn 0304-3940, 4 p.Article

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosisYI YANG; HENTATI, Afif; COLE, Natalie et al.Nature genetics. 2001, Vol 29, Num 2, pp 160-165, issn 1061-4036Article