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5 papers 25 to 100 followers
Kathryn N North, Ching H Wang, Nigel Clarke, Heinz Jungbluth, Mariz Vainzof, James J Dowling, Kimberly Amburgey, Susana Quijano-Roy, Alan H Beggs, Caroline Sewry, Nigel G Laing, Carsten G Bönnemann
Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of congenital myopathy and (2) the specific features that help to discriminate between the different genetic subtypes...
February 2014: Neuromuscular Disorders: NMD
Wiebke Aulbert, Katharina Weigt-Usinger, Charlotte Thiels, Cornelia Köhler, Matthias Vorgerd, Anja Schreiner, Sabine Hoffjan, Tobias Rothoeft, Saskia Brigitte Wortmann, Christoph Malte Heyer, Teodor Podskarbi, Thomas Lücke
Leigh syndrome (MIM 25600), also known as infantile subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder with characteristic bilateral symmetric lesions in basal ganglia and subcortical brain regions. It is commonly associated with systemic cytochrome c oxidase (COX) deficiency and mutations in the SURF1 gene (MIM 185620), encoding a putative assembly or maintenance factor of COX. The clinical course is dominated by neurodevelopmental regression, brain stem, and basal ganglia involvement (e...
December 2014: Neuropediatrics
Saumya S Jamuar, Anh-Thu N Lam, Martin Kircher, Alissa M D'Gama, Jian Wang, Brenda J Barry, Xiaochang Zhang, Robert Sean Hill, Jennifer N Partlow, Aldo Rozzo, Sarah Servattalab, Bhaven K Mehta, Meral Topcu, Dina Amrom, Eva Andermann, Bernard Dan, Elena Parrini, Renzo Guerrini, Ingrid E Scheffer, Samuel F Berkovic, Richard J Leventer, Yiping Shen, Bai Lin Wu, A James Barkovich, Mustafa Sahin, Bernard S Chang, Michael Bamshad, Deborah A Nickerson, Jay Shendure, Annapurna Poduri, Timothy W Yu, Christopher A Walsh
BACKGROUND: Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated. METHODS: Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47)...
August 21, 2014: New England Journal of Medicine
Leonardo Rangel-Castilla, Jonathan J Russin, Eduardo Martinez-Del-Campo, Hector Soriano-Baron, Robert F Spetzler, Peter Nakaji
OBJECT: Arteriovenous malformations (AVMs) are classically described as congenital static lesions. However, in addition to rupturing, AVMs can undergo growth, remodeling, and regression. These phenomena are directly related to cellular, molecular, and physiological processes. Understanding these relationships is essential to direct future diagnostic and therapeutic strategies. The authors performed a search of the contemporary literature to review current information regarding the molecular and cellular biology of AVMs and how this biology will impact their potential future management...
September 2014: Neurosurgical Focus
Satomi Mitsuhashi, Peter B Kang
Limb girdle muscular dystrophy (LGMD) is a heterogeneous group of genetic disorders characterized by progressive muscle weakness with dystrophic muscle pathology caused by autosomal dominant or recessive gene mutations. Recently, several novel causative gene mutations have been associated with LGMD, due in part to recent scientific advances such as next generation sequencing. Interestingly, some of these novel forms of LGMD are allelic with other muscle diseases such as the dystroglycanopathy subtype of congenital muscular dystrophy...
December 2012: Seminars in Pediatric Neurology
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