A. Sudo

发表

Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy

S. Fujimoto, A. Barkovich, J. Takanashi, 2006, Neurology.

Cochlear damage due to germanium-induced mitochondrial dysfunction in guinea pigs

Y. Goto, T. Yamasoba, Mitsuya Suzuki, 2006, Neuroscience Letters.

Possible involvement of the tip of temporal lobe in Landau–Kleffner syndrome

H. Shiraishi, T. Shiga, Kyoko Takano, 2007, Brain and Development.

Case report Possible involvement of the tip of temporal lobe in Landau-Kleffner syndrome

H. Shiraishi, T. Shiga, Kyoko Takano, 2007 .

Germline mosaicism of a novel mutation in lysosome‐associated membrane protein‐2 deficiency (Danon disease)

I. Nishino, Kyoko Takano, S. Saitoh, 2002, Annals of neurology.

Cabergoline Effectively Induced Remission of Prolactinoma in a 9-year-old Japanese Boy

Keita Morioka, T. Ogino, A. Sudo, 2009, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

H. Shiraishi, N. Matsumoto, S. Saitoh, 2012, neurogenetics.

Acute encephalopathy in children with Dravet syndrome

S. Saitoh, T. Okanishi, J. Tohyama, 2012, Epilepsia.

High uptake on 11C-methionine positron emission tomographic scan of basal ganglia germinoma with cerebral hemiatrophy.

S. Terae, T. Shiga, Kyoko Takano, 2003, AJNR. American journal of neuroradiology.

A 17-month-old boy with cerebral infarction following mild respiratory symptoms.

N. Kawamura, A. Sudo, Sawako Watanabe, 2011, Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.

Germline mosaicism of a novel UBE3A mutation in Angelman syndrome

Kyoko Takano, S. Saitoh, Soichiro Tanaka, 2005, American journal of medical genetics. Part A.

Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

I. Nonaka, Yu‐ichi Goto, S. Honzawa, 2004, Journal of Human Genetics.

Eponym: Barth syndrome.

I. Nishino, M. Yamada, T. Ariga, 2011, European journal of pediatrics.

An infantile–juvenile form of Alexander disease caused by a R79H mutation in GFAP

S. Tsujino, S. Saitoh, N. Asahina, 2006, Brain and Development.

Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium

I. Nishino, M. Yamada, T. Ariga, 2011, European Journal of Pediatrics.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Robert W. Taylor, N. Lax, D. Turnbull, 2018, EBioMedicine.

Aberrant somatosensory-evoked responses imply GABAergic dysfunction in Angelman syndrome

Shinji Saitoh, Kiyoshi Egawa, Kyousuke Kamada, 2008, NeuroImage.

Congenital monomelic neurogenic disorder with calf muscle hypertrophy

I. Nonaka, M. Sasaki, M. Fukumizu, 2003, Brain and Development.

STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst pattern

H. Arai, M. Kubota, N. Matsumoto, 2010, Epilepsia.

Validation of Gene Therapy for Mutant Mitochondria by Delivering Mitochondrial RNA Using a MITO-Porter

J. Abe, A. Takeda, H. Harashima, 2020, Molecular therapy. Nucleic acids.

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

J. Shendure, H. Mefford, E. Zackai, 2011, American journal of medical genetics. Part A.

A Case of Novel Mutation of HNF1B in Maturity-onset Diabetes of the Young Type 5 (MODY5)

N. Kawamura, T. Tajima, A. Sudo, 2012, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

H. Shiraishi, N. Matsumoto, S. Saitoh, 2012, neurogenetics.

MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes

S. Saitoh, H. Sasaki, H. Yaguchi, 2010, Journal of Medical Genetics.

A Japanese patient of congenital hypothyroidism with cerebellar atrophy.

K. Fujieda, T. Tajima, A. Sudo, 2007, Endocrine journal.

Successful recovery from severe hypertension in a patient with Leigh syndrome

H. Shiraishi, A. Ohtake, A. Sudo, 2020, Molecular genetics and metabolism reports.

Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I.

Kyoko Takano, Maki Okajima, S. Saitoh, 2003, Pediatric neurology.

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome

Shinji Saitoh, Kyoko Takano, Akira Sudo, 2005, Brain and Development.