4.5 Article

Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

The Korean undiagnosed diseases program: lessons from a one-year pilot project

Soo Yeon Kim et al.

ORPHANET JOURNAL OF RARE DISEASES (2019)

Article Genetics & Heredity

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Dorota Monies et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2019)

Letter Clinical Neurology

GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS

Michaela Waak et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2018)

Review Neurosciences

A mechanistic review on GNAO1-associated movement disorder

Huijie Feng et al.

NEUROBIOLOGY OF DISEASE (2018)

Review Clinical Neurology

Expanding Phenotype of De Novo Mutations in GNAO1:Four New Cases and Review of Literature

David C. Schorling et al.

NEUROPEDIATRICS (2017)

Article Genetics & Heredity

GNAO1 encephalopathy Broadening the phenotype and evaluating treatment and outcome

Federica Rachele Danti et al.

NEUROLOGY-GENETICS (2017)

Article Biochemistry & Molecular Biology

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

Hirotomo Saitsu et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2016)

Article Clinical Neurology

Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation

Neil Kulkarni et al.

JOURNAL OF CHILD NEUROLOGY (2016)

Article Clinical Neurology

Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder

Leonie A. Menke et al.

JOURNAL OF CHILD NEUROLOGY (2016)

Article Genetics & Heredity

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Kazuyuki Nakamura et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2013)