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Toplam kayıt 26, listelenen: 11-20
Variants In The Oxidoreductase Pyroxd1 Cause Early-Onset Myopathy With Internalized Nuclei And Myofibrillar Disorganization
(Cell Press, 2016)
This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing ...
Mutation In Exon 1F Of Plec, Leading To Disruption Of Plectin Isoform 1F, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
(Cell Press, 2010)
Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of inherited muscular disorders manifesting symmetric, proximal, and slowly progressive muscle weakness. Using Affymetrix 250K SNP Array genotyping ...
A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused By Defective De Novo Phosphatidylcholine Biosynthesis
(Cell Press, 2011)
Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been ...
Novel Mutations In Genes Causing Hereditary Spastic Paraplegia And Charcot-Marie-Tooth Neuropathy Identified By An Optimized Protocol For Homozygosity Mapping Based On Whole-Exome Sequencing
(Nature Publishing Group, 2016)
Purpose: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation ...
Recessive Ttn Truncating Mutations Define Novel Forms of Core Myopathy with Heart Disease
(Oxford Univ Press, 2014)
Core myopathies (CM), the main non-dystrophic myopathies in childhood, remain genetically unexplained in many cases. Heart disease is not considered part of the typical CM spectrum. No congenital heart defect has been ...
Mitochondrial Serine Protease Htra2 P.G399S In A Kindred With Essential Tremor And Parkinson Disease
(Natl Acad Sciences, 2014)
Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the ...
Mutations In Klhl40 Are A Frequent Cause Of Severe Autosomal-Recessive Nemaline Myopathy
(Cell Press, 2013)
Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort ...
A Phase 3 Randomized Placebo-Controlled Trial of Tadalafil for Duchenne Muscular Dystrophy
(2017)
Objective: To conduct a randomized trial to test the primary hypothesis that once-daily tadalafil, administered orally for 48 weeks, lessens the decline in ambulatory ability in boys with Duchenne muscular dystrophy (DMD). ...
Missense Mutation In The Atpase, Aminophospholipid Transporter Protein Atp8A2 Is Associated With Cerebellar Atrophy And Quadrupedal Locomotion
(Nature Publishing Group, 2013)
Cerebellar ataxia, mental retardation and dysequilibrium syndrome is a rare and heterogeneous condition. We investigated a consanguineous family from Turkey with four affected individuals exhibiting the condition. Homozygosity ...
Man1B1 Deficiency: An Unexpected Cdg-Ii
(2013)
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene ...