Kazuki Watanabe

Hamamatsu, 4313192, Japan

Last Updated: 09/26/2026

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Found 18 publications

Late-onset encephalitis as an immune-related adverse event of avelumab therapy in a patient with Merkel cell carcinoma of unknown primary.

Late-onset encephalitis as an immune-related adverse event of avelumab therapy in a patient with Merkel cell carcinoma of unknown primary.

Journal: European journal of dermatology : EJD

Published: September 06, 2026

A novel CACNA1S variant associated with diltiazem-related worsening of hypokalemic periodic paralysis: a case report.

A novel CACNA1S variant associated with diltiazem-related worsening of hypokalemic periodic paralysis: a case report.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: May 31, 2026

A case of anti-myelin-oligodendrocyte glycoprotein (MOG) antibody-associated disease without abnormal findings on spinal MRI and cerebrospinal fluid examination

A case of anti-myelin-oligodendrocyte glycoprotein (MOG) antibody-associated disease without abnormal findings on spinal MRI and cerebrospinal fluid examination

Journal: Rinsho shinkeigaku = Clinical neurology

Published: March 11, 2026

A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.

A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant.

Journal: Journal of human genetics

Published: July 13, 2025

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Journal: Scientific reports

Published: June 12, 2024

A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.

A family with neuronal intranuclear inclusion disease with focal segmental glomerulosclerosis.

Journal: Journal of neurology

Published: May 13, 2024

Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Due to Replication Factor C Subunit 1 Gene Repeat Expansion.

Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Due to Replication Factor C Subunit 1 Gene Repeat Expansion.

Journal: Clinical nuclear medicine

Published: February 02, 2024

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.

Journal: Human genome variation

Published: August 17, 2023

RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.

RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.

Journal: Journal of human genetics

Published: August 09, 2023

Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.

Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.

Journal: Neurogenetics

Published: June 18, 2023

Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome.

Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome.

Journal: Frontiers in genetics

Published: May 12, 2023

Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.

Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.

Journal: Acta neuropathologica

Published: September 15, 2022

Showing 1-12 of 18

Last Updated: 09/26/2026