Results 51 to 60 of about 3,537,976 (165)

Congenital myopathies: characteristic and subtypes in Hong Kong [PDF]

, 2015
Congenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features. This is a unique group with phenotypic, genotypic and pathological heterogeneity, so the confirmation of an ...
Cheng, Y, Lam, WMW, Chan, AOK, Fung, STH, Ng, GSF, Wong, S, Wong, VCN, Lee, HCH, Ip, JJK, Chan, HSS, Cherk, SWW, Ho, RSL, Chan, TSK, Shek, WH, Lee, CN, Liu, KT   +15 more
core   +1 more source

Enzymology of the metazoan tRNA ligase complex: a lifetime in cycles

Cellular and Molecular Life Sciences
This review highlights the emerging biochemistry and biology of the metazoan tRNA-ligase complex (tRNA-LC). We begin with an overview of the cleavage-ligation pathways dependent on the tRNA-LC, epitomised by the essential process of pre-tRNA splicing ...
Igor Asanović, Javier Martinez
doaj   +1 more source

Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores

Human Mutation, 2008
Mutations of the ryanodine receptor cause dominant and recessive forms of congenital myopathies with cores. Quantitative defects of RYR1 have been reported in families presenting with recessive forms of the disease and epigenic regulation has been recently proposed to explain potential maternal monoallelic silencing of the RYR1 gene.
Monnier, Nicole, Marty, Isabelle, Faure, Julien, Castiglioni, Claudia, Desnuelle, Claude, Sacconi, Sabrina, Estournet, Brigitte, Ferreiro, Ana, Romero, Norma, Laquerriere, Annie, Lazaro, Leila, Martin, Jean-Jacques, Morava, Eva, Rossi, Annick, van Der Kooi, Anneke, de Visser, Marianne, Verschuuren, Corien, Lunardi, Joël   +17 more
openaire   +7 more sources

Cervical Inlet Patches in R‐CPD: An Unrecognized Predictor of Treatment Failure

The Laryngoscope, EarlyView.
This retrospective cohort study identified cervical inlet patches (CIP) in 19.8% of patients undergoing cricopharyngeal botulinum toxin injection for R‐CPD. CIP presence and increasing age independently predicted failure to sustain a long‐term treatment response, suggesting that CIP may be an underrecognized factor in R‐CPD treatment durability ...
Andrew Geoffrey Tritter, Nabeeha Hasan, Jered Wilson   +2 more
wiley   +1 more source

Consensus Statement on Standard of Care for Congenital Myopathies

, 2012
Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers ...
Schuler, Pamela M, Amburgey, Kimberly, Schuler, Pamela M., Schroth, Mary K., Florence, Julaine M, Bonnemann, Carsten, Yuan, Nanci, Fitzgerald, Dominic, North, Kathryn, Jungbluth, Heinz; id_orcid, Apkon, Susan, Koumbourlis, Anastassios C., Koumbourlis, Anastassios C, Shapiro, Frederic, Main, Marion, Sewry, Caroline, Storhaug, Kari, Dowling, James J, Morrison, Leslie A, Rose, Kristy, Gurgel-Giannetti, Juliana, Schroth, Mary K, Bertini, Enrico, Laing, Nigel G., Wang, Ching H, Wang, Ching H., Gee, Richard, Morrison, Leslie A., Glanzman, Allan M., Sejersen, Thomas, Munns, Craig, Guillet, Marc, Weiss, Hali, Clarke, Nigel, Connolly, Anne M., Jungbluth, Heinz, Estournet-Mathiaud, Brigitte, Laing, Nigel G, Connolly, Anne M, Glanzman, Allan M, Bellini, Jonathan, Florence, Julaine M., Vainzof, Mariz, Dowling, James J., Hofmeister, Brittany   +44 more
core   +1 more source

Curating the Fetal Genome: Experience of the ClinGen Prenatal Gene Curation Expert Panel (GCEP)

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Expert prenatal focused gene‐disease curation is necessary to accurately inform clinical care in the setting of rapidly expanding prenatal genomic sequencing. Methods An international Prenatal Gene Curation Expert Panel assembled and systematically reviewed genes asserted to be associated with prenatal hydrops, stillbirth, or severe ...
Stephanie N. Galloway, Jessica L. Giordano, Carrie Shawber, Natalie Chandler, Lauren Westerfield, Prenatal GCEP Panel members, Ronald J. Wapner, Wendy Chung, Ignatia B. Van den Veyver, Shagun Aggarwal, Caitlin Baptiste, Brenna Boyd, Amanda Buchanan, Alicia Byrne, Imen Chakchouk, David Chitayat, Lyn Chitty, Pinal Dalwadi, Avinash Dharmadhikari, Lilian Downie, Stephanie Dukhovny, Mythily Ganapathi, Kelly Gilmore, Elena Greenfeld, Lylach Haizler‐Cohen, Vaidehi Jobanputra, Gabrielle Litteken, Hannah Perrin, Julie Ratliff, Rebecca Reimers, Erin Riggs, Teresa Sparks, Samantha Stover, Amanda Thomas‐Wilson, Leandra Tolusso, Neeta Vora, Tsegaselassie Workalemahu, Roni Zemet‐Lazar   +37 more
wiley   +1 more source

Update and Review of Congenital Myopathies

, 2009
Congenital myopathies are reviewed by neuropathology researchers in New Delhi, India, and Mainz ...
J Gordon Millichap
core   +1 more source

Prevalence of congenital myopathies in a representative pediatric united states population [PDF]

, 2011
The prevalence of congenital myopathies in the United States has not been examined. To address this, we determined the point prevalence of congenital myopathies in a well‐defined pediatric population from Southeastern Michigan.
Nancy McNamara, Acsadi, Gyula, M. Eileen McCormick, McNamara, Nancy, Amburgey, Kimberly, Kimberly Amburgey, Lindsey R. Bennett, Gyula Acsadi, Bennett, Lindsey R., James J. Dowling, McCormick, M. Eileen, Dowling, James J.   +11 more
core   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Congenital myopathies: not only a paediatric topic [PDF]

, 2016
Contains fulltext : 167683.pdf (Publisher’s version ) (Open Access)PURPOSE OF REVIEW: This article reviews adult presentations of the major congenital myopathies - central core disease, multiminicore disease, centronuclear myopathy and ...
Jungbluth, Heinz; id_orcid, Voermans, N.C., Nicol C. Voermans, Voermans, Nicol C, Jungbluth, H., Heinz Jungbluth   +5 more
core   +2 more sources