Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction

The complex phenotype of spinocerebellar ataxia type 48 (SCA48) in eight unrelated Italian families

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Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease

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Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

(2018) Giovanna De Michele et al.   Frontiers in Neurology

A Child With Ichthyosis and Liver Failure

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Corrigendum to “Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both” [Neuromuscular Disorders 26/8 (2016) 549]

(2017) Michelangelo Mancuso et al.   NEUROMUSCULAR DISORDERS

Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease

(2016) Samuel M. Lee et al.   MOLECULAR NEUROBIOLOGY

SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement

(2016) Andreea Manole et al.   NEUROGENETICS

Hereditary motor and sensory neuropathies: Understanding molecular pathogenesis could lead to future treatment strategies

(2015) Nivedita U. Jerath et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mitochondrial DNA copy number differentiates the Leber’s hereditary optic neuropathy affected individuals from the unaffected mutation carriers

(2015) Angelica Bianco et al.   BRAIN

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Demyelinating CMT–what’s known, what’s new and what’s in store?

(2015) Kathryn M. Brennan et al.   NEUROSCIENCE LETTERS

Mitochondrial dynamics and inherited peripheral nerve diseases

(2015) Davide Pareyson et al.   NEUROSCIENCE LETTERS

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3

(2014) A. M. Alazami et al.   NEUROLOGY

Mitochondrial DNA: Impacting Central and Peripheral Nervous Systems

(2014) Valerio Carelli et al.   NEURON

Peripheral neuropathy in mitochondrial disorders

(2013) Davide Pareyson et al.   LANCET NEUROLOGY

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3

(2013) K. Nakhro et al.   NEUROLOGY

Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and “fork and bracket sign” in the MRI: A distinct syndrome

(2010) André Mégarbané et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Charcot-Marie-Tooth Disease: A Clinico-genetic Confrontation

(2008) N. Barisic et al.   ANNALS OF HUMAN GENETICS