Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein–dynactin–cargo adaptor complexes

(2017) Ha Thi Hoang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

(2016) Seyyedmohsen Hosseinibarkooie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

(2016) C. Fiorillo et al.   EUROPEAN JOURNAL OF NEUROLOGY

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype ofBICD2mutations

(2016) Sabine Rudnik-Schöneborn et al.   MUSCLE & NERVE

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement

(2016) Andreas Unger et al.   NEUROLOGY

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

(2016) Gianina Ravenscroft et al.   NEUROMUSCULAR DISORDERS

High Myopia–Excavated Optic Disc Anomaly Associated With a Frameshift Mutation in the MYC-Binding Protein 2 Gene (MYCBP2)

(2015) Cecilie Bredrup et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Genetic Modifiers and Oligogenic Inheritance

(2015) M. Kousi et al.   Cold Spring Harbor Perspectives in Medicine

Dominant spinal muscular atrophy is caused by mutations in BICD2, an important golgin protein

(2015) Lilian A. Martinez-Carrera et al.   Frontiers in Neuroscience

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

(2014) Alexander M. Rossor et al.   BRAIN

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

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

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

(2013) Kristien Peeters et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

(2013) Kornelia Neveling et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Cytoplasmic dynein heavy chain: the servant of many masters

(2013) Giampietro Schiavo et al.   TRENDS IN NEUROSCIENCES

BICD2, dynactin, and LIS1 cooperate in regulating dynein recruitment to cellular structures

(2012) Daniël Splinter et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2012) M. B. Harms et al.   NEUROLOGY

The more, the better: the BICD family gets bigger

(2010) Marco Terenzio et al.   EMBO JOURNAL

Arthrogryposis: A Review and Update

(2009) Michael Bamshad et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy

(2008) Juliane Ramser et al.   AMERICAN JOURNAL OF HUMAN GENETICS