The Genetics of Spinal Muscular Atrophy: Progress and Challenges

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation

(2014) Shingo Kariya et al.   JOURNAL OF CLINICAL INVESTIGATION

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

(2014) A. Di Fonzo et al.   NEUROLOGY

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

(2014) R. J. Butterfield et al.   NEUROLOGY

A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance

(2013) Charlotte J. Sumner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Emily C. Oates 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

Responsiveness of the Motor Function Measure in Patients With Spinal Muscular Atrophy

(2013) Carole Vuillerot et al.   ARCHIVES OF PHYSICAL MEDICINE AND REHABILITATION

Temporal requirement for SMN in motoneuron development

(2013) Le T. Hao et al.   HUMAN MOLECULAR 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

Rasch analysis of clinical outcome measures in spinal muscular atrophy

(2013) Stefan J. Cano et al.   MUSCLE & NERVE

The motor neuron response toSMN1deficiency in spinal muscular atrophy

(2013) Peter B. Kang et al.   MUSCLE & NERVE

Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice

(2013) Bradley J. Turner et al.   NEUROBIOLOGY OF AGING

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations

(2013) K. Aure et al.   NEUROLOGY

SMA-MAP: A Plasma Protein Panel for Spinal Muscular Atrophy

(2013) Dione T. Kobayashi et al.   PLoS One

Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy

(2012) Katy E.S. Barwick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

(2012) Christian Beetz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

SMN Is Required for Sensory-Motor Circuit Function in Drosophila

(2012) Wendy L. Imlach et al.   CELL

Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction

(2012) R. G. Gogliotti et al.   JOURNAL OF NEUROSCIENCE

Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy

(2012) T. L. Martinez et al.   JOURNAL OF NEUROSCIENCE

Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy

(2012) Michelle A. Farrar et al.   JOURNAL OF PEDIATRICS

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

(2012) Jijun Wan et al.   NATURE GENETICS

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

(2012) R. D. S. Pitceathly et al.   NEUROLOGY

Prospective cohort study of spinal muscular atrophy types 2 and 3

(2012) P. Kaufmann et al.   NEUROLOGY

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

(2012) M. B. Harms et al.   NEUROLOGY

Candidate Proteins, Metabolites and Transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

(2012) Richard S. Finkel et al.   PLoS One

Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study

(2012) Thomas O. Crawford et al.   PLoS One

TSEN54 mutation in a child with pontocerebellar hypoplasia type 1

(2011) Alessandro Simonati et al.   ACTA NEUROPATHOLOGICA

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

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation

(2011) Sergiu C. Blumen et al.   ANNALS OF NEUROLOGY

Observational Study of Spinal Muscular Atrophy Type 2 and 3

(2011) Petra Kaufmann   ARCHIVES OF NEUROLOGY

Dysfunction of axonal membrane conductances in adolescents and young adults with spinal muscular atrophy

(2011) M. A. Farrar et al.   BRAIN

Infantile spinal muscular atrophy with respiratory distress type I (SMARD 1): An atypical phenotype and review of the literature

(2011) Maria F. Messina et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

(2011) Chantal A. Mutsaers et al.   HUMAN MOLECULAR GENETICS

Temporal requirement for high SMN expression in SMA mice

(2011) T. T. Le et al.   HUMAN MOLECULAR GENETICS

The spinal muscular atrophy disease protein SMN is linked to the rho-kinase pathway via profilin

(2011) Anna Nölle et al.   HUMAN MOLECULAR GENETICS

Spinal Muscular Atrophy Type III

(2011) Sally Dunaway et al.   JOURNAL OF CHILD NEUROLOGY

The distal hereditary motor neuropathies

(2011) Alexander M Rossor et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

(2011) M. Ruggiu et al.   MOLECULAR AND CELLULAR BIOLOGY

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy

(2011) George Z. Mentis et al.   NEURON

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

(2010) Marina L. Kennerson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

(2010) Yasmin Namavar et al.   BRAIN

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy

(2010) Thomas M. Wishart et al.   HUMAN MOLECULAR GENETICS

Reduced Survival of Motor Neuron (SMN) Protein in Motor Neuronal Progenitors Functions Cell Autonomously to Cause Spinal Muscular Atrophy in Model Mice Expressing the Human Centromeric (SMN2) Gene

(2010) G.-H. Park et al.   JOURNAL OF NEUROSCIENCE

Mutant small heat shock protein B3 causes motor neuropathy: Utility of a candidate gene approach

(2010) S. J. Kolb et al.   NEUROLOGY

Dominant spinal muscular atrophy with lower extremity predominance: Linkage to 14q32

(2010) M. B. Harms et al.   NEUROLOGY

SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy

(2010) Kathryn J. Swoboda et al.   PLoS One

Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy

(2010) Karen K. Y. Ling et al.   PLoS One

Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

(2009) Paul Renbaum et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spinal Muscular Atrophy: Molecular Mechanisms

(2009) M. Farrar et al.   CURRENT MOLECULAR MEDICINE

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

(2009) Lyndsay M. Murray et al.   HUMAN MOLECULAR GENETICS

Severe Neuropathy After Diphtheria-Tetanus-Pertussis Vaccination in a Child Carrying a Novel Frame-Shift Mutation in the Small Heat-Shock Protein 27 Gene

(2009) Paola Mandich et al.   JOURNAL OF CHILD NEUROLOGY

Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice

(2009) L. Kong et al.   JOURNAL OF NEUROSCIENCE

Bone loss in survival motor neuron (Smn−/−SMN2) genetic mouse model of spinal muscular atrophy

(2009) Srinivasan Shanmugarajan et al.   JOURNAL OF PATHOLOGY

SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis

(2009) Mélissa Bowerman et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

(2009) Michaela Auer-Grumbach et al.   NATURE GENETICS

Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

(2009) Han-Xiang Deng et al.   NATURE GENETICS

Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy

(2009) Dirk Bäumer et al.   PLoS Genetics

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

Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature

(2008) Leonie A. Menke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

(2008) T. O. Gavrilina et al.   HUMAN MOLECULAR GENETICS

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

(2008) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

Embryonic motor axon development in the severe SMA mouse

(2008) V. L. McGovern et al.   HUMAN MOLECULAR GENETICS

A natural history study of late onset spinal muscular atrophy types 3b and 4

(2008) S. Piepers et al.   JOURNAL OF NEUROLOGY

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE