[HTML][HTML] Distinctive serum miRNA profile in mouse models of striated muscular pathologies
N Vignier, F Amor, P Fogel, A Duvallet, J Poupiot… - PloS one, 2013 - journals.plos.org
Biomarkers are critically important for disease diagnosis and monitoring. In particular, close
monitoring of disease evolution is eminently required for the evaluation of therapeutic …
monitoring of disease evolution is eminently required for the evaluation of therapeutic …
[PDF][PDF] A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy
We report the first missense mutation in the mtDNA gene for subunit II of cytochrome c
oxidase (COX). The mutation was identified in a 14-year-old boy with a proximal myopathy …
oxidase (COX). The mutation was identified in a 14-year-old boy with a proximal myopathy …
[PDF][PDF] Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea
S Bauché, S O'regan, Y Azuma, F Laffargue… - The American Journal of …, 2016 - cell.com
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited
defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs) …
defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs) …
The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
T Pulkes, L Eunson, V Patterson, A Siddiqui… - Annals of …, 1999 - Wiley Online Library
We report on 4 male patients with clinical, radiological, and muscle biopsy findings typical of
the mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes …
the mitochondrial encephalomyopathy with lactic acidosis and stroke‐like episodes …
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?
The Antley-Bixler syndrome has been thought to be caused by an autosomal recessive
gene. However, patients with this phenotype have been reported with a new dominant …
gene. However, patients with this phenotype have been reported with a new dominant …
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy
R De Cid, R Ben Yaou, C Roudaut, K Charton… - Neurology, 2015 - AAN Enterprises
Objective: To identify the genetic defects present in 3 families with muscular dystrophy,
contractures, and calpain 3 deficiency. Methods: We performed targeted exome sequencing …
contractures, and calpain 3 deficiency. Methods: We performed targeted exome sequencing …
[PDF][PDF] A form of muscular dystrophy associated with pathogenic variants in JAG2
S Coppens, AM Barnard, S Puusepp, S Pajusalu… - The American Journal of …, 2021 - cell.com
JAG2 encodes the Notch ligand Jagged2. The conserved Notch signaling pathway
contributes to the development and homeostasis of multiple tissues, including skeletal …
contributes to the development and homeostasis of multiple tissues, including skeletal …
[HTML][HTML] Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
HJ Kim, P Mohassel, S Donkervoort, L Guo… - Nature …, 2022 - nature.com
Missense variants in RNA-binding proteins (RBPs) underlie a spectrum of disease
phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion …
phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion …
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
AR Foley, Y Zou, JE Dunford, J Rooney… - Annals of …, 2020 - Wiley Online Library
Objective A hitherto undescribed phenotype of early onset muscular dystrophy associated
with sensorineural hearing loss and primary ovarian insufficiency was initially identified in 2 …
with sensorineural hearing loss and primary ovarian insufficiency was initially identified in 2 …
Depletion of mitochondrial DNA by ddC in untransformed human cell lines
In order to study the interaction between the nuclear and mitochondrial genomes we have
developed a non-transformed cell system. It is based upon the complete removal of mtDNA …
developed a non-transformed cell system. It is based upon the complete removal of mtDNA …