4.2 Article

Recessive VAMP1 mutations associated with severe congenital myasthenic syndromes-A recognizable clinical phenotype

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

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

Pratibha Nair et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2018)

Review Cell Biology

SNARE proteins in membrane trafficking

Tuanlao Wang et al.

TRAFFIC (2017)

Article Clinical Neurology

Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome

Xin-Ming Shen et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2017)

Article Clinical Neurology

Homozygous Mutations in VAMP1 Cause a Presynaptic Congenital Myasthenic Syndrome

Vincenzo Salpietro et al.

ANNALS OF NEUROLOGY (2017)

Review Clinical Neurology

SNARE complex in developmental psychiatry: neurotransmitter exocytosis and beyond

Renata Basso Cupertino et al.

JOURNAL OF NEURAL TRANSMISSION (2016)

Review Clinical Neurology

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

Andrew G. Engel et al.

LANCET NEUROLOGY (2015)

Article Genetics & Heredity

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

Cynthia V. Bourassa et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Biochemical Research Methods

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

William McLaren et al.

BIOINFORMATICS (2010)

Article Biochemical Research Methods

Fast and accurate long-read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Biochemical Research Methods

The Sequence Alignment/Map format and SAMtools

Heng Li et al.

BIOINFORMATICS (2009)