Výsledky vyhledávání - "Harold G. Marks"

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

Autor: Takeshi Tsuda, Kevin M. Flanigan, Kristi K Fitzgerald, Samuel S. Gidding, Steven A. Moore, Mary O. Cox, Mena Scavena, Harold G. Marks

Publikováno v: Journal of human genetics

We report a family in which two male siblings with Becker muscular dystrophy (BMD) developed severe dilated cardiomyopathy (DCM) and progressive heart failure (HF) at age 11; one died at age 14 years while awaiting heart transplant and the other unde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36254f37ea0f6003ee2f5a113c435d44
https://doi.org/10.1038/jhg.2014.112

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Effect of Triplet Repeat Expansion on Chromatin Structure and Expression of DMPK and Neighboring Genes, SIX5 and DMWD, in Myotonic Dystrophy

Autor: Priscilla A. Moses, Vicky L. Funanage, Kenneth R. Singleton, Iris L. Gonzalez, Harold G. Marks, Paul Carango, Richard Frisch

Publikováno v: Molecular Genetics and Metabolism. 74:281-291

Myotonic dystrophy (DM), an autosomal dominant neuromuscular disease, is associated with expansion of a polymorphic (CTG) n repeat in the 3′-untranslated region of the DM protein kinase ( DMPK ) gene. The repeat expansion results in decreased level

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7553b075c7cea8209fd951662f0f258
https://doi.org/10.1006/mgme.2001.3229

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Laminin 2 muscular dystrophy: Genotype/phenotype studies of 22 patients

Publikováno v: Neurology. 51:101-110

Objective: To determine the number of primary laminin α2 gene mutations and to conduct genotype/phenotype correlation in a cohort of lamininα2-deficient congenital muscular dystrophy patients. Background: Congenital muscular dystrophies (CMD) are a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::62ff4ca051e33de44e789bc8b15ba9da
https://doi.org/10.1212/wnl.51.1.101

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Krabbe's disease presenting as a peripheral neuropathy

Autor: Edwin H. Kolodny, Michael J. Palmieri, Mena Scavina, Judith Childs, Harold G. Marks

Publikováno v: Muscle & Nerve. 20:1024-1028

A 13-year-old female initially presented with scoliosis and pes cavus. Initial examination revealed distal lower extremity weakness and sensory loss, as well as greater auricular nerve hypertrophy. There was a Babinski sign on the right. Nerve conduc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8963466b27612ccd906a59bf9ff7b770
https://doi.org/10.1002/(sici)1097-4598(199708)20:8<1024::aid-mus13>3.0.co

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Overexpression of DM20 messenger RNA in two brothers with pelizaeus-merzbacher disease

Autor: Rubén E. Quirós, Paul Carango, Vicky L. Funanage, Craig S. Debruyn, Harold G. Marks

Publikováno v: Annals of Neurology. 38:610-617

Pelizaeus-Merzbacher disease is a rare, sex-linked recessive, dysmyelinating disease of the central nervous system that has been associated with mutations in the myelin proteolipid protein (PLP) gene. Only 25% of patients studied with Pelizaeus-Merzb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d7fbffd98e251ed00e2e1a44886cbf27
https://doi.org/10.1002/ana.410380409

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Dejerine–Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene

Autor: Peter J. Dyck, Harold G. Marks, Benjamin B. Roa, James R. Lupski, Phillip F. Chance

Publikováno v: Nature Genetics. 5:269-273

Dejerine–Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance in most pedigrees. Clinical symptoms are similar but more severe than Charcot–Marie–Tooth disease type 1 (CMT1), o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67d66de6ee5d3fb7afef04321700147
https://doi.org/10.1038/ng1193-269

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Absence of Myotonic Dystrophy Protein Kinase (DMPK) mRNA as a Result of a Triplet Repeat Expansion in Myotonic Dystrophy

Autor: Paul Carango, J.Elizabeth Noble, Harold G. Marks, Vicky L. Funanage

Publikováno v: Genomics. 18:340-348

Myotonic dystrophy is an autosomally dominant inherited disease in which system-wide abnormalities are caused by a triplet repeat expansion within the 3[prime] untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. To determine the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::074393a7359d5d5118f0f12503cf36c8
https://doi.org/10.1006/geno.1993.1474

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Intraspinal Epidermoid Tumors in Children

Autor: James T. Guille, Harold G. Marks, Pilar A. Caro, Jay S. Kumar, David Keret

Publikováno v: Journal of Pediatric Orthopaedics. 11:288-293

Iatrogenic intraspinal epidermoid tumors are very rare. The similarity of the clinical manifestations of the tumor with other childhood problems can pose a problem in diagnosis. In addition, because of the lag in time between the lumbar puncture and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ed5912ff2b6e565d22c8f3f6a27db95c
https://doi.org/10.1097/01241398-199105000-00003

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Delayed cervical central cord syndrome after trivial trauma

Autor: Harold G. Marks, Nina L. Steg, James J. Riviello, Eric N. Faerber

Publikováno v: Pediatric Emergency Care. 6:113-117

Spinal cord injuries in children usually result from significant trauma. Two children with a delayed cervical central cord syndrome following trivial trauma are reported, one with no predisposing factor and one with a Chiari I malformation. Although

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::174eadd8187c55ef88a12afd648b55f4
https://doi.org/10.1097/00006565-199006000-00012

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