Transfer RNA and human disease
JA Abbott, CS Francklyn, SM Robey-Bond - Frontiers in genetics, 2014 - frontiersin.org
Pathological mutations in tRNA genes and tRNA processing enzymes are numerous and
result in very complicated clinical phenotypes. Mitochondrial tRNA (mt-tRNA) genes are …
result in very complicated clinical phenotypes. Mitochondrial tRNA (mt-tRNA) genes are …
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies
BW van Paassen, AJ van der Kooi… - Orphanet journal of rare …, 2014 - Springer
Abstract PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-
Marie-Tooth disease type 1A (CMT1A),(2) PMP22 deletions, leading to Hereditary …
Marie-Tooth disease type 1A (CMT1A),(2) PMP22 deletions, leading to Hereditary …
[HTML][HTML] Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy
Summary Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous
distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 …
distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 …
The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy
C DiVincenzo, CD Elzinga, AC Medeiros… - Molecular genetics & …, 2014 - Wiley Online Library
We report the frequency, positive rate, and type of mutations in 14 genes (PMP22, GJB1,
MPZ, MFN2, SH3TC2, GDAP1, NEFL, LITAF, GARS, HSPB1, FIG4, EGR2, PRX, and …
MPZ, MFN2, SH3TC2, GDAP1, NEFL, LITAF, GARS, HSPB1, FIG4, EGR2, PRX, and …
A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease
MA Gonzalez, SM Feely, F Speziani, AV Strickland… - Brain, 2014 - academic.oup.com
Mutations in VCP have been reported to account for a spectrum of phenotypes that include
inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia …
inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia …
Genetic heterogeneity of motor neuropathies
B Bansagi, H Griffin, RG Whittaker, T Antoniadi… - Neurology, 2017 - AAN Enterprises
Objective: To study the prevalence, molecular cause, and clinical presentation of hereditary
motor neuropathies in a large cohort of patients from the North of England. Methods …
motor neuropathies in a large cohort of patients from the North of England. Methods …
Neurofilament light chain as a biomarker, and correlation with magnetic resonance imaging in diagnosis of CNS-related disorders
The search for diagnostic and prognostic biomarkers for neurodegenerative conditions is of
high importance, since these disorders may present difficulties in differential diagnosis …
high importance, since these disorders may present difficulties in differential diagnosis …
Function over form: modeling groups of inherited neurological conditions in zebrafish
RA Kozol, AJ Abrams, DM James, E Buglo… - Frontiers in molecular …, 2016 - frontiersin.org
Zebrafish are a unique cell to behavior model for studying the basic biology of human
inherited neurological conditions. Conserved vertebrate genetics and optical transparency …
inherited neurological conditions. Conserved vertebrate genetics and optical transparency …
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2
E Cottenie, A Kochanski, A Jordanova… - The American Journal of …, 2014 - cell.com
Using a combination of exome sequencing and linkage analysis, we investigated an English
family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type …
family with two affected siblings in their 40s with recessive Charcot-Marie Tooth disease type …
Dynamic regulation of Schwann cell enhancers after peripheral nerve injury
Myelination of the peripheral nervous system is required for axonal function and long term
stability. After peripheral nerve injury, Schwann cells transition from axon myelination to a …
stability. After peripheral nerve injury, Schwann cells transition from axon myelination to a …