Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

(2016) Adriana P. Rebelo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies

(2016) S. Tey et al.   CLINICAL GENETICS

Axonal Charcot–Marie–Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties

(2015) Mario A. Saporta et al.   EXPERIMENTAL NEUROLOGY

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

(2015) Kristien Peeters et al.   HUMAN MUTATION

Mitochondrial dynamics and inherited peripheral nerve diseases

(2015) Davide Pareyson et al.   NEUROSCIENCE LETTERS

Lack of GDAP1 Induces Neuronal Calcium and Mitochondrial Defects in a Knockout Mouse Model of Charcot-Marie-Tooth Neuropathy

(2015) Manuela Barneo-Muñoz et al.   PLoS Genetics

Characterization of Mutants of Human Small Heat Shock Protein HspB1 Carrying Replacements in the N-Terminal Domain and Associated with Hereditary Motor Neuron Diseases

(2015) Lydia K. Muranova et al.   PLoS One

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

(2014) Alexander M. Rossor et al.   BRAIN

Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot–Marie–Tooth neuropathy

(2014) Víctor López Del Amo et al.   HUMAN MOLECULAR GENETICS

Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model

(2014) Alleene V. Strickland et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites

(2014) Rainer Benndorf et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

Disturbed mitochondrial dynamics and neurodegenerative disorders

(2014) Florence Burté et al.   Nature Reviews Neurology

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy

(2014) Christina DiVincenzo et al.   Molecular Genetics & Genomic Medicine

Clinical implications of genetic advances in Charcot–Marie–Tooth disease

(2013) Alexander M. Rossor et al.   Nature Reviews Neurology

Dynein mutations associated with hereditary motor neuropathies impair mitochondrial morphology and function with age

(2013) Judith Eschbach et al.   NEUROBIOLOGY OF DISEASE

Signalling endosomes in axonal transport: Travel updates on the molecular highway

(2013) Nathalie Schmieg et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Molecular basis of axonal dysfunction and traffic impairments in CMT

(2012) Benoit J. Gentil et al.   BRAIN RESEARCH BULLETIN

HspB1 Dynamic Phospho-Oligomeric Structure Dependent Interactome as Cancer Therapeutic Target

(2012) A.-P. Arrigo et al.   CURRENT MOLECULAR MEDICINE

The family of mammalian small heat shock proteins (HSPBs): Implications in protein deposit diseases and motor neuropathies

(2012) Alessandra Boncoraglio et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Mitofusin2 Mutations Disrupt Axonal Mitochondrial Positioning and Promote Axon Degeneration

(2012) A. L. Misko et al.   JOURNAL OF NEUROSCIENCE

A novel p.Glu175X premature stop mutation in the C-terminal end of HSP27 is a cause of CMT2

(2012) Alexander M. Rossor et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients

(2012) Joy Irobi et al.   NEUROMUSCULAR DISORDERS

Charcot–Marie–Tooth disease and intracellular traffic

(2012) Cecilia Bucci et al.   PROGRESS IN NEUROBIOLOGY

Small Heat-Shock Protein HSPB1 Mutants Stabilize Microtubules in Charcot-Marie-Tooth Neuropathy

(2011) L. Almeida-Souza et al.   JOURNAL OF NEUROSCIENCE

HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients

(2011) Simona Capponi et al.   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

The sites and topology of mitochondrial superoxide production

(2010) Martin D. Brand   EXPERIMENTAL GERONTOLOGY

Mutant HSPB8 causes motor neuron-specific neurite degeneration

(2010) Joy Irobi et al.   HUMAN MOLECULAR GENETICS

Increased Monomerization of Mutant HSPB1 Leads to Protein Hyperactivity in Charcot-Marie-Tooth Neuropathy

(2010) Leonardo Almeida-Souza et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype

(2010) M. Luigetti et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Deficits in axonal transport precede ALS symptoms in vivo

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

A novel recessiveNeflmutation causes a severe, early-onset axonal neuropathy

(2009) Sabrina W. Yum et al.   ANNALS OF NEUROLOGY

The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy

(2009) Satyakam Bhagavati et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Mitochondrial and Axonal Abnormalities Precede Disruption of the Neurofilament Network in a Model of Charcot-Marie-Tooth Disease Type 2E and Are Prevented by Heat Shock Proteins in a Mutant-Specific Fashion

(2009) Miranda L. Tradewell et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)

(2008) P A James et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A clinical phenotype of distal hereditary motor neuronopathy type II with a novel HSPB1 mutation

(2008) Yoshihisa Ikeda et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

(2008) Julien Cassereau et al.   NEUROGENETICS

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

(2008) H. Houlden et al.   NEUROLOGY