Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

(2018) Petra Lassuthova et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The TRPV4 channel links calcium influx to DDX3X activity and viral infectivity

(2018) P. Doñate-Macián et al.   Nature Communications

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

(2017) José Berciano et al.   JOURNAL OF NEUROLOGY

Defective axonal transport: A common pathological mechanism in inherited and acquired peripheral neuropathies

(2017) Robert Prior et al.   NEUROBIOLOGY OF DISEASE

CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration

(2017) Paloma González-Sánchez et al.   Scientific Reports

MORC2mutations in a cohort of Chinese patients with Charcot–Marie–Tooth disease type 2

(2016) Xin Zhao et al.   BRAIN

A splicing mutation inVPS4Bcauses dentin dysplasia I

(2016) Qi Yang et al.   JOURNAL OF MEDICAL GENETICS

Tolerability and efficacy study of P2X7 inhibition in experimental Charcot-Marie-Tooth type 1A (CMT1A) neuropathy

(2016) Giovanna Sociali et al.   NEUROBIOLOGY OF DISEASE

Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review

(2016) Lidiane Carine Lima Santos Barreto et al.   NEUROEPIDEMIOLOGY

Stimulation-induced Ca2+influx at nodes of Ranvier in mouse peripheral motor axons

(2015) Zhongsheng Zhang et al.   JOURNAL OF PHYSIOLOGY-LONDON

Charcot-Marie-Tooth disease and pathways to molecular based therapies

(2014) T. Harel et al.   CLINICAL GENETICS

The disorders of the calcium release unit of skeletal muscles: what have we learned from mouse models?

(2014) Marta Canato et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Calcium Release from Intra-Axonal Endoplasmic Reticulum Leads to Axon Degeneration through Mitochondrial Dysfunction

(2014) R. Villegas et al.   JOURNAL OF NEUROSCIENCE

Charcot-Marie-Tooth Disease Type 2A

(2014) Francesco Bombelli et al.   JAMA Neurology

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

(2013) Clare V Logan et al.   NATURE GENETICS

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

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

Dysregulation of Mitochondrial Calcium Signaling and Superoxide Flashes Cause Mitochondrial Genomic DNA Damage in Huntington Disease

(2012) Jiu-Qiang Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Both short intense and prolonged moderate in vitro stimulation reduce the mRNA expression of calcium-regulatory proteins in rat skeletal muscle

(2012) Satu Mänttäri et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

The PMP22 Gene and Its Related Diseases

(2012) Jun Li et al.   MOLECULAR NEUROBIOLOGY

Upregulation of the CaV 1.1-ryanodine receptor complex in a rat model of critical illness myopathy

(2011) Susan D. Kraner et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease

(2011) Meiko Hashimoto Maeda et al.   ANNALS OF NEUROLOGY

Structural Basis for the Trembler-J Phenotype of Charcot-Marie-Tooth Disease

(2011) Masayoshi Sakakura et al.   STRUCTURE

Abnormal calcium homeostasis in peripheral neuropathies

(2009) Paul Fernyhough et al.   CELL CALCIUM