Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

(2015) M. Scoto et al.   NEUROLOGY

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

(2013) Emily C. Oates et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis

(2013) Michael A. Gonzalez et al.   HUMAN MUTATION

Novel DyneinDYNC1H1Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development

(2013) Chiara Fiorillo et al.   HUMAN MUTATION

Muscle type and fiber type specificity in muscle wasting

(2013) Stefano Ciciliot et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype

(2013) M. Synofzik et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

(2013) Karine Poirier et al.   NATURE GENETICS

Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity

(2012) Alice Brockington et al.   ACTA NEUROPATHOLOGICA

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells

(2012) Emily C. Oates et al.   BRAIN

Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias

(2012) Vincent Timmerman et al.   EXPERIMENTAL NEUROLOGY

Analyses of Dynein Heavy Chain Mutations Reveal Complex Interactions Between Dynein Motor Domains and Cellular Dynein Functions

(2012) S. Sivagurunathan et al.   GENETICS

Mutations inDYNC1H1cause severe intellectual disability with neuronal migration defects

(2012) Marjolein H Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS

(2012) Jamie M. Eskuri et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Schwann cell myelination requires Dynein function

(2012) Melissa M Langworthy et al.   Neural Development

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

(2012) Yoshinori Tsurusaki et al.   NEUROGENETICS

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

(2012) M. B. Harms et al.   NEUROLOGY

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

(2011) Michael N. Weedon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuronal migration defects in the Loa dynein mutant mouse

(2011) Kassandra M Ori-McKenney et al.   Neural Development

Motor Neuron Diversity in Development and Disease

(2010) Kevin C. Kanning et al.   Annual Review of Neuroscience

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

(2010) Heng Li et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Neurodegenerative Mutation in Cytoplasmic Dynein Alters Its Organization and Dynein-Dynactin and Dynein-Kinesin Interactions

(2010) Wenhan Deng et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Analysis of a zebrafish dync1h1 mutant reveals multiple functions for cytoplasmic dynein 1 during retinal photoreceptor development

(2010) Christine Insinna et al.   Neural Development

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

(2009) R Schule et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutant dynein (Loa) triggers proprioceptive axon loss that extends survival only in the SOD1 ALS model with highest motor neuron death

(2008) H. S. Ilieva et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA