Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations

Regulation of mitotic spindle orientation: an integrated view

(2016) Florencia di Pietro et al.   EMBO REPORTS

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

(2015) Julia Lauer Zillhardt et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies

(2015) Kristien Peeters et al.   HUMAN MUTATION

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

(2015) Alleene V. Strickland et al.   JOURNAL OF NEUROLOGY

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

(2015) M. Scoto et al.   NEUROLOGY

Genomic Variants and Variations in Malformations of Cortical Development

(2015) Saumya S. Jamuar et al.   PEDIATRIC CLINICS OF NORTH AMERICA

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

(2014) Nadia Bahi-Buisson et al.   BRAIN

Allosteric Communication in the Dynein Motor Domain

(2014) Gira Bhabha et al.   CELL

Malformations of cortical development: clinical features and genetic causes

(2014) Renzo Guerrini et al.   LANCET NEUROLOGY

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

(2014) Catherine Fallet-Bianco et al.   Acta Neuropathologica Communications

Polymicrogyria: pathology, fetal origins and mechanisms

(2014) Waney Squier et al.   Acta Neuropathologica Communications

Clinical neuropathology practice guide 5-2013: markers of neuronal maturation

(2013) Harvey B. Sarnat   CLINICAL NEUROPATHOLOGY

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

(2013) Chiara Fiorillo et al.   HUMAN MUTATION

Microtubule-based transport - basic mechanisms, traffic rules and role in neurological pathogenesis

(2013) M. A. M. Franker et al.   JOURNAL OF CELL SCIENCE

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

(2013) Karine Poirier et al.   NATURE GENETICS

Functions and mechanics of dynein motor proteins

(2013) Anthony J. Roberts et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A developmental and genetic classification for malformations of cortical development: update 2012

(2012) A. James Barkovich et al.   BRAIN

Mutations inDYNC1H1cause severe intellectual disability with neuronal migration defects

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

The 2.8 Å crystal structure of the dynein motor domain

(2012) Takahide Kon et al.   NATURE

Multiple modes of cytoplasmic dynein regulation

(2012) Richard B. Vallee et al.   NATURE CELL BIOLOGY

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

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

(2011) Fowzan S. Alkuraya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structure and function of the AAA+ nucleotide binding pocket

(2011) Petra Wendler et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mitotic Spindle Orientation in Asymmetric and Symmetric Cell Divisions during Animal Development

(2011) Xavier Morin et al.   DEVELOPMENTAL CELL

Polymicrogyria Includes Fusion of the Molecular Layer and Decreased Neuronal Populations But Normal Cortical Laminar Organization

(2011) Alexander R. Judkins et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype

(2010) Magalie Lecourtois et al.   ACTA NEUROPATHOLOGICA

Focal Cortical Dysplasias: clinical implication of neuropathological classification systems

(2010) Roberto Spreafico et al.   ACTA NEUROPATHOLOGICA

LIS1 and NudE Induce a Persistent Dynein Force-Producing State

(2010) Richard J. McKenney et al.   CELL

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

(2009) Xavier Hubert Jaglin et al.   NATURE GENETICS

Autosomal dominant congenital spinal muscular atrophy – A possible developmental deficiency of motor neurones?

(2008) S. Reddel et al.   NEUROMUSCULAR DISORDERS

Structure and Functional Role of Dynein's Microtubule-Binding Domain

(2008) A. P. Carter et al.   SCIENCE