Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Sinéad M. Murphy, Matilde Laurá, Katherine A. Fawcett, +14

Journal of Neurology Neurosurgery & Psychiatry

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

Sahar Al‐Mahdawi, Ricardo Mouro Pinto, Dhaval Varshney, +8

Genomics

Neurodegenerative DiseasesDegenerative DiseaseDegenerative PathologyNeurochemical BiomarkersNeurology +5

Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I)

Henry Houlden, R. H. M. King, Julian Blake, +10

Brain

GeneticsPathologyMolecular GeneticsDisease Gene IdentificationGenomics +15

Genetic dysfunction of <i>MT-ATP6</i> causes axonal Charcot-Marie-Tooth disease

Robert D. S. Pitceathly, Sinéad M. Murphy, Ellen Cottenie, +22

Neurology

Liver failure associated with mitochondrial DNA depletion

Andrew A. M. Morris, Jan‐Willem Taanman, Julian Blake, +7

Journal of Hepatology

Dna DamageHepatologyMitochondrial FunctionMitochondrial BiogenesisLiver Physiology +5

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

Alexander M. Rossor, Emily C. Oates, Hannah K. Salter, +25

Brain

GeneticsMolecular BiologyMolecular GeneticsDisease Gene IdentificationKinesiology +14

The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

Henry Houlden, Matilde Laurá, Lionel Ginsberg, +6

Neuromuscular Disorders

MedicinePathogenesisSh3tc2 MutationsPathologyDegenerative Disease +3

Ndrg1 in development and maintenance of the myelin sheath

R. H. M. King, David Chandler, Sash Lopaticki, +12

Neurobiology of Disease

Myelin SheathPeripheral NervesNeurologyNeuroscienceNeuropathology +2

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

Adriana Rebelo, Alexander J. Abrams, Ellen Cottenie, +19

The American Journal of Human Genetics

Neurodegenerative DiseasesMolecular NeuroscienceNeurobiology Of DiseasePeripheral NervesNeuroanatomy +11

Mutations in noncoding regions of <i>GJB1</i> are a major cause of X-linked CMT

Pedro José Tomaselli, Alexander M. Rossor, Alejandro Horga, +11

Neurology