Y. Azuma

发表

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Long Guo, A. Takata, C. Kim, 2020, Human mutation.

IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome

A. Masuda, K. Ohno, A. Engel, 2016, Journal of Human Genetics.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

L. Servais, I. Nelson, N. Romero, 2016, American journal of human genetics.

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

A. Takata, C. Kim, N. Matsumoto, 2019, Journal of Human Genetics.

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

A. Takata, N. Matsumoto, N. Miyake, 2022, Genome Medicine.

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

S. Antonarakis, A. Takata, N. Matsumoto, 2020, Human mutation.

Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia

A. Takata, N. Matsumoto, N. Miyake, 2020, Human Genome Variation.

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

P. Lockhart, S. Kapoor, J. Milunsky, 2019, Journal of Human Genetics.

Whole exome sequencing of fetal structural anomalies detected by ultrasonography

A. Takata, N. Matsumoto, A. Itakura, 2020, Journal of Human Genetics.

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome

N. Matsumoto, Y. Matsubara, T. Mizuguchi, 2019, Journal of Human Genetics.

Subcortical infarction in a young adult with Hunter syndrome

A. Okumura, M. Doyu, Y. Azuma, 2022, Brain and Development.

Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits

Y. Nomura, A. Masuda, K. Ohno, 2015, Neuromuscular Disorders.

Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2

H. Kurahashi, A. Okumura, Y. Azuma, 2022, Brain and Development.

Seizure characteristics of epilepsy in childhood after acute encephalopathy with biphasic seizures and late reduced diffusion

S. Saitoh, S. Kojima, Kazuyoshi Watanabe, 2015, Epilepsia.

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome

H. Lochmüller, W. Marques, E. Zanoteli, 2018, Journal of Neurology.

Prenatal clinical manifestations in individuals with COL4A1/2 variants

Yoshihiko Saito, A. Takata, H. Arai, 2020, Journal of Medical Genetics.

SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome

A. Masuda, K. Ohno, A. Engel, 2015, Scientific Reports.

Long‐term Follow‐up of Patients with Benign Partial Epilepsy in Infancy

H. Kurahashi, Kazuyoshi Watanabe, A. Okumura, 2006, Epilepsia.

De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.

A. R. Mohamed, A. Takata, Y. Goshima, 2020, American journal of human genetics.

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

A. Takata, C. Kim, N. Matsumoto, 2019, Journal of Human Genetics.

Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

N. Matsumoto, K. Ogata, A. Itakura, 2021, Journal of Human Genetics.

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

D. Cirillo, H. Lochmüller, Rachel Thompson, 2023, bioRxiv.

MYRF is associated with encephalopathy with reversible myelin vacuolization

A. Masuda, K. Ohno, M. Mizuguchi, 2018, Annals of neurology.

Cytotoxic edema at onset in West syndrome of unknown etiology: A longitudinal diffusion tensor imaging study

H. Kawai, H. Kidokoro, J. Natsume, 2018, Epilepsia.

Hydrogen ameliorates pulmonary hypertension in rats by anti-inflammatory and antioxidant effects.

K. Ohno, S. Kojima, Mikako Ito, 2015, The Journal of thoracic and cardiovascular surgery.

Sodium channel blockers are effective for benign infantile epilepsy

H. Kurahashi, A. Okumura, Y. Azuma, 2021, Seizure.

Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

H. Arai, N. Matsumoto, K. Kagitani-Shimono, 2023, Journal of the Neurological Sciences.

Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome

S. Nabatame, H. Kidokoro, J. Natsume, 2020, Brain & development (Tokyo. 1979).

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

D. Cirillo, H. Lochmüller, Rachel Thompson, 2023, bioRxiv.

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions

Hanns Lochmüller, B. Eymard, S. Nicole, 2017, Journal of neuromuscular diseases.

[Clinical features of congenital myasthenic syndrome in Japan].

A. Okumura, M. Sasaki, Y. Azuma, 2012, No to hattatsu = Brain and development.

Mutations in the C‐Terminal Domain of ColQ in Endplate Acetylcholinesterase Deficiency Compromise ColQ–MuSK Interaction

A. Masuda, K. Ohno, S. Kojima, 2013, Human mutation.

Fournier’s gangrene during ACTH therapy

H. Kurahashi, A. Numaguchi, A. Okumura, 2017, Brain & development (Tokyo. 1979).

Effects of l-carnitine supplementation in patients with childhood-onset epilepsy prescribed valproate

H. Kurahashi, A. Okumura, Y. Azuma, 2021, Epilepsy & Behavior.

Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report

A. Okumura, Y. Azuma, H. Kusano, 2021, BMC Pediatrics.

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes

H. Kurahashi, Hanns Lochmüller, T. Evangelista, 2017, Neurology: Genetics.

Hydrogen ameliorates pulmonary hypertension in rats by anti-inflammatory and antioxidant effects.

K. Ohno, S. Kojima, Mikako Ito, 2015, The Journal of thoracic and cardiovascular surgery.

Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.

E. Zanoteli, A. Hentschel, Y. Azuma, 2023, Journal of neurology.

IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome

A. Masuda, K. Ohno, A. Engel, 2016, Journal of Human Genetics.

Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

H. Arai, N. Matsumoto, K. Ozono, 2023, Journal of the Neurological Sciences.