K. Hara

发表

Mutations in COQ2 in familial and sporadic multiple-system atrophy.

J. Trojanowski, S. Gilman, K. Shirahige, 2013, The New England journal of medicine.

Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia

R. Kuwano, M. Nishizawa, T. Ikeuchi, 2007, Journal of Medical Genetics.

[Molecular mechanism and therapeutic strategy for cerebral small vessel disease].

K. Hara, 2010, Rinsho shinkeigaku = Clinical neurology.

Variants associated with Gaucher disease in multiple system atrophy

J. Trojanowski, S. Gilman, Y. Kuroiwa, 2015, Annals of clinical and translational neurology.

Multiplex families with multiple system atrophy.

I. Kanazawa, S. Tsuji, A. Kakita, 2007, Archives of neurology.

[Case of anti VGKC-complex antibody associated disorder presenting with severe pain and fasciculations predominant in unilateral upper extremity].

K. Hara, O. Watanabe, H. Ishiguro, 2012, Rinsho shinkeigaku = Clinical neurology.

TRPM7 is not associated with amyotrophic lateral sclerosis‐parkinsonism dementia complex in the Kii peninsula of Japan

S. Tsuji, A. Miyashita, R. Kuwano, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Neuroblastoma ampliﬁed sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger e Hue¨t anomaly

A. Miyashita, Hitoshi Takahashi, Svetlana Potapova, 2022 .

Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus

I. Kanazawa, S. Tsuji, A. Miyashita, 2004, Neurology.

Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families

S. Tsuji, M. Nishizawa, Yuji Takahashi, 2008, Neurology.

A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy

K. Nakayama, I. Nishino, R. Funayama, 2021, Journal of Human Genetics.

[Sporadic case of non-progressive neurogenic muscular atrophy localized in both calf muscles].

N. Suzuki, M. Tateyama, K. Hara, 2013, Rinsho shinkeigaku = Clinical neurology.

Primary degeneration of oculomotor, motor, and somatosensory systems and auditory and visual pathways in spinocerebellar ataxia type 7: A clinicopathological study in a Japanese autopsy case

K. Enomoto, K. Hara, H. Miyata, 2022, Neuropathology : official journal of the Japanese Society of Neuropathology.

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

S. Tsuji, R. Kuwano, N. Wakamatsu, 2010, BMC Medical Genetics.

[A case of vascular parkinsonism associated with hyperhomocysteinemia and methylenetetrahydrofolate reductase gene variant (C677T)].

K. Hara, H. Ishiguro, H. Ouchi, 2016, Rinsho shinkeigaku = Clinical neurology.

M. Nishizawa, O. Onodera, K. Hara, 2007, Movement Disorders.

Generation of an ALS human iPSC line KEIOi001-A from peripheral blood of a Charcot disease-affected patient carrying TARDBP p.N345K heterozygous SNP mutation.

H. Okano, N. Suzuki, M. Aoki, 2020 .

[A case of anti-SRY-Related HMG-Box Gene 1 (SOX1) antibody-positive chorea].

K. Hara, Kana Inoue, H. Ouchi, 2020, Rinsho shinkeigaku = Clinical neurology.

[A case of Japanese Laing type distal myopathy with a mutation in MYH7 gene].

I. Nishino, K. Hara, H. Miyata, 2019, Rinsho shinkeigaku = Clinical neurology.

Frequency and clinical characteristics of pseudogout complicated by acute stroke

K. Hara, H. Ishiguro, H. Ouchi, 2016 .

[A case of fasciitis localized in the calf muscles associated with Edwardsiella tarda sepsis].

K. Hara, H. Ishiguro, T. Miyauchi, 2011, Rinsho shinkeigaku = Clinical neurology.

New mutation in the non‐gigantic exon of SACS in Japanese siblings

T. Shimohata, M. Nishizawa, O. Onodera, 2007, Movement disorders : official journal of the Movement Disorder Society.

Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

S. Tsuji, K. Arima, Tadashi Yamamoto, 2009, The New England journal of medicine.

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly

Osamu Onodera, Masatoyo Nishizawa, Akinori Miyashita, 2010, Journal of Medical Genetics.

New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2

M. Nishizawa, O. Onodera, K. Hara, 2006, Neurology.

Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL

R. Kuwano, M. Nishizawa, Mari Yoshida, 2016, Neurology.

Vitamin D receptor and Alzheimer's disease: a genetic and functional study

J. Gilbert, J. Haines, M. Pericak-Vance, 2012, Neurobiology of Aging.

Botulinum toxin treatment for blepharospasm associated with myasthenia gravis

M. Nishizawa, K. Hara, Keiko Tanaka, 2007, Movement disorders : official journal of the Movement Disorder Society.

Trident sign in a case of neuromyelitis optica spectrum disorder

K. Hara, Kana Inoue, H. Ouchi, 2021 .

[A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene].

N. Matsumoto, S. Miyatake, K. Hara, 2022, Rinsho shinkeigaku = Clinical neurology.

Endoscopic Management for Recurrent Hydrocephalus Associated with Neurosarcoidosis - A Case Report.

H. Shimizu, K. Nishiyama, K. Hara, 2020, World neurosurgery.

Thyrotoxicosis Presenting as Unilateral Drop Foot

K. Hara, H. Miyata, H. Ishiguro, 2017, Internal medicine.

Spinocerebellar ataxia type 15

Elsdon Storey, S. Tsuji, E. Storey, 2008, The Cerebellum.

N. Tanimoto, H. Shiota, K. Miki, 2005, Movement disorders : official journal of the Movement Disorder Society.

Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3.

S. Tsuji, A. Miyashita, R. Kuwano, 2007, Brain : a journal of neurology.

A new Japanese amyotrophic lateral sclerosis family with TARDBP (TDP‐43) mutation

O. Onodera, K. Hara, Tomohiko Ishihara, 2018, Neurology and Clinical Neuroscience.

Genome-wide association study identifies a new susceptibility locus in PLA2G4C for Multiple System Atrophy.

Sonja W. Scholz, A. Singleton, Y. Kusakabe, 2023, medRxiv.

Progressive conus medullaris lesions are suggestive of intravascular large B‐cell lymphoma

A. Kakita, K. Okamoto, O. Onodera, 2023, European journal of neurology.

Primary Position Upbeat Nystagmus with Low Serum Vitamin B12

K. Ishikawa, K. Hara, Kana Inoue, 2020, Internal medicine.

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger–Huët anomaly

M. Takagi, A. Miyashita, Hitoshi Takahashi, 2010, Journal of Medical Genetics.