C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot–Marie–Tooth disease in a knockout mouse model

Loss‐of‐function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system

(2020) Gyun Jee Song et al.   GLIA

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

(2019) Shun-Chang Sun et al.   BRAIN

Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges

(2019) Menelaos Pipis et al.   Nature Reviews Neurology

Placentation defects are highly prevalent in embryonic lethal mouse mutants

(2018) Vicente Perez-Garcia et al.   NATURE

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease

(2018) Mo Zhao et al.   Neurotherapeutics

A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy

(2017) Shiroh Miura et al.   European Journal of Medical Genetics

Human gene essentiality

(2017) István Bartha et al.   NATURE REVIEWS GENETICS

Towards a functional pathology of hereditary neuropathies

(2016) Joachim Weis et al.   ACTA NEUROPATHOLOGICA

Novel fusion genes and chimeric transcripts in ependymal tumors

(2016) Thale Kristin Olsen et al.   GENES CHROMOSOMES & CANCER

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

(2015) Weiwei He et al.   NATURE

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

A novelINF2mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis

(2014) Hyung J. Park et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Intermediate Charcot-Marie-Tooth disease

(2014) Lei Liu et al.   Neuroscience Bulletin

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

(2014) Vincent Timmerman et al.   Genes

Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes

(2013) Jacqueline K. White et al.   CELL

Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot–Marie–Tooth disease type 1C

(2013) Samuel M. Lee et al.   HUMAN MOLECULAR GENETICS

Peripheral neuropathy in mitochondrial disorders

(2013) Davide Pareyson et al.   LANCET NEUROLOGY

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

A novel double mutation in cis in MFN2 causes Charcot–Marie–Tooth neuropathy type 2A

(2012) Su-Yeon Park et al.   NEUROGENETICS

Early Embryonic Lethality in Genetically Engineered Mice: Diagnosis and Phenotypic Analysis

(2011) V. E. Papaioannou et al.   VETERINARY PATHOLOGY

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate inDrosophilafeatures of human Charcot–Marie–Tooth neuropathy

(2009) Erik Storkebaum et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA