Výsledky vyhledávání - "Mena Scavina"

No difference in postoperative complication rates or cardiopulmonary function for early versus late scoliosis correction in Duchenne muscular dystrophy

Autor: Ali Asma, Armagan Can Ulusaloglu, Michael Wade Shrader, William G. Mackenzie, Robert Heinle, Mena Scavina, Jason J. Howard

Publikováno v: Spine Deformity. 10:1429-1436

Given reduced rates of both pulmonary function decline and scoliosis progression with steroid treatment in Duchenne muscular dystrophy (DMD), the role of early scoliosis surgery has been questioned. The purpose of this study was to compare the postop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bbe847d7fbbb7dcab12c5614ef8ad6d
https://doi.org/10.1007/s43390-022-00532-6

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Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy

Autor: Dorota Gruber, Michele Lloyd‐Puryear, Niki Armstrong, Mena Scavina, Norma P. Tavakoli, Amy M. Brower, Michele Caggana, Wendy K. Chung

Publikováno v: American journal of medical genetics. Part C, Seminars in medical geneticsREFERENCES. 190(2)

Duchenne muscular dystrophy (DMD) is the most common pediatric-onset form of muscular dystrophy, occurring in 1 in 5,000 live male births. DMD is a multi-system disease resulting in muscle weakness with progressive deterioration of skeletal, heart, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02bd1ffd9dc9e7fdda7b5e1bf6f8f351
https://pubmed.ncbi.nlm.nih.gov/36152336

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Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR

Autor: Matthew E.R. Butchbach, Deborah L. Stabley, Katherine M. Robbins, Thomas O. Crawford, Mena Scavina, Kathryn J. Swoboda, Jennifer Holbrook

Publikováno v: neurogenetics. 22:53-64

Proximal spinal muscular atrophy (SMA), a leading genetic cause of infant death worldwide, is an early-onset motor neuron disease characterized by loss of α-motor neurons and associated muscle atrophy. SMA is caused by deletion or other disabling mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::908acf422b7ad5cbbe6e0936cfae9d3f
https://doi.org/10.1007/s10048-020-00630-5

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A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

Autor: Steven S. Scherer, Jessica Richardson, Lois Dankwa, Steve Courel, William W. Motley, Mena Scavina, Tanya M. Bardakjian, Stephan Züchner

Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, “classical CMT2”, and late-onset axonal neuropathy. We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neurop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e88ca47499241a3cfcf81e018adf9461
https://europepmc.org/articles/PMC6415944/

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An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features

Autor: John Wolff, Michael O. Dorschner, Thomas D. Bird, Wendy H. Raskind, Maxwell Ma, Prasanthi Karna, Dong-Hui Chen, Mena Scavina, Elizabeth Blue

Publikováno v: Musclenerve. 57(5)

Introduction Mutations in gap junction protein beta 1 (GJB1) on the X chromosome represent one of the most common causes of hereditary neuropathy. We assessed manifestations associated with a rare 3' untranslated region mutation (UTR) of GJB1 in a la

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af353938b5e47cfedacc57947ff88e18
https://pubmed.ncbi.nlm.nih.gov/29236290

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Critical Airway Stenosis in an Adolescent Male With Pompe Disease and Thoracic Lordosis: A Case Report

Autor: Mary T. Theroux, Suken A. Shah, Mena Scavina, Robert Heinle, B. Randall Brenn, William G. Mackenzie

Publikováno v: AA case reports. 9(7)

An adolescent male with late-onset Pompe disease (glycogen storage disease type II) presented with a history of restrictive airway disease and a near-cardiorespiratory arrest during anesthesia for a liver biopsy initially thought to be due to broncho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c821dde9be7ce3a3c5c8b04bb42126e8
https://pubmed.ncbi.nlm.nih.gov/28542051

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