Charcot–Marie–Tooth (CMT) Disease

Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy characterized by loss of muscle and touch sensation. Discover the latest research on CMT here.

August 21, 2020
Open Access

Novel xylose transporter Cs4130 expands the sugar uptake repertoire in recombinant Saccharomyces cerevisiae strains at high xylose concentrations

Biotechnology for Biofuels
João Gabriel Ribeiro BuenoLeandro Vieira Dos Santos
August 21, 2020
Case Report

Expanding the phenotypic spectrum of TRIM2-associated Charcot-Marie-Tooth disease

Journal of the Peripheral Nervous System : JPNS
Stefania MagriIsabella Moroni
August 25, 2020
Review
Open Access

Acute and chronic neuropathies

Medicine
Lionel Ginsberg
October 20, 2020

Central nervous system impairment detected by somatosensory evoked potentials in patients with Charcot-Marie-Tooth disease type 1A

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Xiajun ZhouYi Wang
September 22, 2020
Open Access

Intraepidermal nerve fibre density as biomarker in Charcot-Marie-Tooth disease type 1A

Brain Communications
Beate HartmannsbergerClaudia Sommer
September 23, 2020

Charcot-Marie-Tooth disease Type 1A: Longitudinal change in nerve ultrasound parameters

Muscle & Nerve
Yuta KojimaMasanori Nakagawa
September 10, 2020
Open Access

Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations

Frontiers in Neurology
Xiaoxuan LiuDongsheng Fan
October 7, 2020
Open Access

FFA2-, but not FFA3-agonists inhibit GSIS of human pseudoislets: a comparative study with mouse islets and rat INS-1E cells

Scientific Reports
Estela Lorza-GilSusanne Ullrich
October 20, 2020
Open Access

Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A

ELife
Antonietta FrancoGerald W Dorn Ii
August 30, 2020
Case Report

A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy

Neuromuscular Disorders : NMD
Mai HamaguchiKoichi Hirata
October 6, 2020
Open Access

Brain Plasticity in Charcot-Marie-Tooth Type 1A Patients? A Combined Structural and Diffusion MRI Study

Frontiers in Neurology
G PontilloM Quarantelli
September 3, 2020
Open Access

Diarylphosphate as a New Route for Design of Highly Luminescent Ln Complexes

Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry
Alexey E KaluginDmitrii M Roitershtein
August 28, 2020
Open Access

Reliability of the Charcot-Marie-Tooth functional outcome measure

Journal of the Peripheral Nervous System : JPNS
Paula BrayKaty J Eichinger
September 13, 2020

Microstructural Integrity of Peripheral Nerves in Charcot-Marie-Tooth Disease: An MRI Evaluation Study

Journal of Magnetic Resonance Imaging : JMRI
Peng Loon CheahNorlisah Ramli
September 20, 2020
Open Access

Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease

Annals of Clinical and Translational Neurology
Julius RönkköEmil Ylikallio

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