Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D mice

Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease

(2013) L. P. Bogdanik et al.   Disease Models & Mechanisms

Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy

(2013) James N. Sleigh et al.   HUMAN MOLECULAR GENETICS

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice

(2012) Ágnes Patzkó et al.   BRAIN

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

Spinal muscular atrophy at the crossroads of basic science and therapy

(2012) James N. Sleigh et al.   NEUROMUSCULAR DISORDERS

Pervasive Synaptic Branch Removal in the Mammalian Neuromuscular System at Birth

(2012) Juan C. Tapia et al.   NEURON

Morphological Characteristics of Motor Neurons Do Not Determine Their Relative Susceptibility to Degeneration in a Mouse Model of Severe Spinal Muscular Atrophy

(2012) Sophie R. Thomson et al.   PLoS One

Secreted human glycyl-tRNA synthetase implicated in defense against ERK-activated tumorigenesis

(2012) M. C. Park et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA)

(2012) Masahisa Katsuno et al.   PROGRESS IN NEUROBIOLOGY

Intrinsic and therapeutic factors determining the recovery of motor function after peripheral nerve transection

(2011) Emmanouil Skouras et al.   ANNALS OF ANATOMY-ANATOMISCHER ANZEIGER

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy

(2011) J. N. Sleigh et al.   Disease Models & Mechanisms

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

ApoE isoform-specific regulation of regeneration in the peripheral nervous system

(2011) Laura H. Comley et al.   HUMAN MOLECULAR GENETICS

2011 Meeting of the Peripheral Nerve Society
June 25-29, 2011
Potomac, Maryland

(2011)   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

(2011) Constantin d'Ydewalle et al.   NATURE MEDICINE

Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening

(2011) W. He et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels

(2011) William W. Motley et al.   PLoS Genetics

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

(2010) H. Skre   CLINICAL GENETICS

Altered Intracellular Ca2+ Homeostasis in Nerve Terminals of Severe Spinal Muscular Atrophy Mice

(2010) R. Ruiz et al.   JOURNAL OF NEUROSCIENCE

Review: Neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy

(2010) L. M. Murray et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Attenuation of age-related changes in mouse neuromuscular synapses by caloric restriction and exercise

(2010) G. Valdez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

GARS axonopathy: not every neuron's cup of tRNA

(2010) William W. Motley et al.   TRENDS IN NEUROSCIENCES

An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy

(2009) F. Achilli et al.   Disease Models & Mechanisms

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

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

The Role of Aminoacyl-tRNA Synthetases in Genetic Diseases

(2008) Anthony Antonellis et al.   Annual Review of Genomics and Human Genetics

Local stabilization of microtubule assembly improves recovery of facial nerve function after repair

(2007) Maria Grosheva et al.   EXPERIMENTAL NEUROLOGY