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References in periodicals archive ?
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.
Common early signs of facioscapulohumeral muscular dystrophy are a forward sloping of the shoulders as well as difficulty raising the arms over the head and closing the eyes.
(NASDAQ: XLRN) has released positive preliminary results for the first two cohorts in Part 1 of the Phase 2 clinical trial with ACE-083 in patients with facioscapulohumeral dystrophy, a rare genetic muscle disorder that results in progressive focal muscle loss and weakness, the company said.
We are pleased to have announced the initiation of the Phase 2b ReDUX4 clinical trial and to announce today the initiation of the Phase 2 open label clinical trial of our lead product candidate, losmapimod, for the treatment of patients with facioscapulohumeral muscular dystrophy (FSHD).
Dyne is advancing a treatment for myotonic dystrophy type 1 in addition to programs for Duchenne muscular dystrophy and facioscapulohumeral muscular dystrophy.
Facioscapulohumeral Muscular Dystrophy (FSHD), one of the most common muscular dystrophies, is a progressive, degenerative and profoundly disabling disorder estimated to affect about 1 in 8,333 to 1 in 20,000 people globally.
Muscle regeneration and inflammation in patients with facioscapulohumeral muscular dystrophy.
([double dagger]) Includes Arnold-Chiari malformation, Asperger's syndrome, autistic-like behavior with scoliosis, congenital encephalopathy, congenitial insensitivity to pain with anhidrosis (HS AN type IV), Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, hypothalamic glioma status post resection, Marian's syndrome, muscular dystrophy, Noonan syndrome, paraplegia secondary to spinal cord tumor resection, polio, Prader-Willi syndrome, Rett syndrome, seizure disorder, spina bifida, spinal muscular atrophy type 2, syndromic scoliosis, unspecified neuromuscular disorder, and VATER.
Em 1950, conseguem sensibilizar Paul Cohen, um importante empresario da cidade de Nova York, diagnosticado com a Facioscapulohumeral Muscular Dystroph e que se tornou o primeiro presidente da MDA.
Lee et al., "A human pluripotent stem cell model of facioscapulohumeral muscular dystrophy-affected skeletal muscles," Stem Cells Translational Medicine, vol.
Examples of these disorders include trinucleotide repeat disorders such as Huntington disease, myotonic dystrophy, fragile X syndrome and spinocerebellar ataxias, Duchenne/ Becker muscular dystrophy: exon duplications in the DMD gene; Charcot-Marie-Tooth disease type 1A and hereditary neural pressure palsy: 1.3-Mb duplication at 17p12 (reciprocal deletion for hereditary neural pressure palsy); myotonic dystrophy types 1 and 2: CTG trinucleotide repeat (type 1) and CCTG tetranucleotide repeat (type 2); facioscapulohumeral muscular dystrophy, type 1: contraction of D4Z4 repeat at 4q with permissive 4qA telomeric haplotype; and spinal muscular atrophy (95%): homozygous deletion of SMN1.