Mitochondrial dynamics in mammalian health and disease

M Liesa, M Palacín, A Zorzano - Physiological reviews, 2009 - journals.physiology.org
The meaning of the word mitochondrion (from the Greek mitos, meaning thread, and
chondros, grain) illustrates that the heterogeneity of mitochondrial morphology has been …

Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease

D Pareyson, V Scaioli, M Laura - Neuromolecular medicine, 2006 - Springer
Abstract Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of
disorders sharing the same clinical phenotype, characterized by distal limb muscle wasting …

Mitochondrial dynamics and inherited peripheral nerve diseases

D Pareyson, P Saveri, A Sagnelli, G Piscosquito - Neuroscience letters, 2015 - Elsevier
Peripheral nerves have peculiar energetic requirements because of considerable length of
axons and therefore correct mitochondria functioning and distribution along nerves is …

Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects

U Manzoor, A Ali, SL Ali, O Abdelkarem… - Journal of Genetic …, 2023 - Elsevier
Abstract Introduction Mutations in GDAP1 (Ganglioside-induced differentiation-associated
protein 1) gene are linked to Charcot-Marie-Tooth disease (CMT), a Heterogenous group of …

GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

L Pedrola, A Espert, X Wu, R Claramunt… - Human molecular …, 2005 - academic.oup.com
Mutations in GDAP1, the ganglioside-induced differentiation-associated protein 1 gene,
cause Charcot–Marie–Tooth (CMT) type 4A, a severe autosomal recessive form of …

Distal spinal and bulbar muscular atrophy caused by dynactin mutation

I Puls, SJ Oh, CJ Sumner, KE Wallace… - Annals of Neurology …, 2005 - Wiley Online Library
Impaired axonal transport has been postulated to play a role in the pathophysiology of
multiple neurodegenerative disorders. In this report, we describe the results of clinical and …

Inherited peripheral neuropathies

MA Saporta, ME Shy - Neurologic clinics, 2013 - neurologic.theclinics.com
First described at the end of the nineteenth century by French neurologists Jean Martin
Charcot and Pierre Marie and British neurologist Howard Henry Tooth, Charcot-Marie-Tooth …

Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

J Berciano, A García, E Gallardo, K Peeters… - Journal of …, 2017 - Springer
Abstract Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited
neuropathy with great variety of phenotypes, inheritance patterns, and causative genes …

Charcot‐marie‐tooth disease: a clinico‐genetic confrontation

N Barisic, KG Claeys… - Annals of human …, 2008 - Wiley Online Library
Summary Charcot‐Marie‐Tooth disease (CMT) is the most common neuromuscular
disorder. It represents a group of clinically and genetically heterogeneous inherited …

Clinical genetics of Charcot–Marie–Tooth disease

Y Higuchi, H Takashima - Journal of Human Genetics, 2023 - nature.com
Recent research in the field of inherited peripheral neuropathies (IPNs) such as Charcot–
Marie–Tooth (CMT) disease has helped identify the causative genes provided better …