Results 101 to 110 of about 7,022 (221)

Limb-Girdle Muscular Dystrophies

Pediatric Neurology Briefs, 2003
The phenotype in limb-girdle muscular dystrophy (LGMD) type 21 was defined by mutation analysis, protein studies, and respiratory and cardiac involvement studied in 16 patients from 14 families with fukutin-related protein (FKRP) gene mutations and LGMD,
J Gordon Millichap
doaj   +1 more source

Tail properties and approximate distribution and expansion for extreme of LGMD

Journal of Inequalities and Applications, 2017
We introduce logarithmic generalized Maxwell distribution motivated by Vodă (Math. Rep. 11:171-179, 2009), which is an extension of the generalized Maxwell distribution.
Jian-wen Huang, Jianjun Wang, Guowang Luo, Jun He   +3 more
semanticscholar   +1 more source

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Neuromuscular Disorders, 2015
Highlights • We have carried out the largest screening of the ANO5 gene.• We identified 33 patients (4%) with pathogenic changes in both alleles and 23 heterozygotes (3%).• The identification of a ANO5 carrier is not to be considered an uncommon finding.•
M. Savarese, G. Di Fruscio, G. Tasca, L. Ruggiero, S. Janssens, Jan L. De Bleecker, M. Delpech, O. Musumeci, A. Toscano, C. Angelini, S. Sacconi, L. Santoro, E. Ricci, K. Claes, L. Politano, V. Nigro   +15 more
semanticscholar   +1 more source

Re-framing bio-plausible collision detection: identifying shared meta-properties through strategic prototyping

Frontiers in Neurorobotics
Insects exhibit remarkable abilities in navigating complex natural environments, whether it be evading predators, capturing prey, or seeking out con-specifics, all of which rely on their compact yet reliable neural systems.
Haotian Wu, Haotian Wu, Shigang Yue, Shigang Yue, Cheng Hu, Cheng Hu   +5 more
doaj   +1 more source

Izomdystrophiák differenciál-diagnosztikai vizsgálata molekuláris genetikai, valamint immunhisztokémiai és immunoblot analízisek segítségével = Differential diagnostic study of muscle dystrophies by molecular genetic, immunohystochemical and Western-blot analyses [PDF]

, 2007
A DMD/BMD betegségben célul tűzték ki a cDNS próbák alkalmazását a hordozósági státusz vizsgálatára és a deléciók pontos méretének meghatározására. Az újonnan bevezetett MLPA módszer segítségével a teljes dystrophin gén feltérképezésére, bizonyos pont ...
Balog, Judit, Hajdu, Krisztina, Herczegfalvi, Ágnes, Karcagi, Veronika, Kékesdyné dr. Siska, Éva, Pikó, Henriett, Tímár, László, Tóth, András   +7 more
core  

Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D

Human Molecular Genetics, 2014
Many membrane and secretory proteins that fail to pass quality control in the endoplasmic reticulum (ER) are dislocated into the cytosol and degraded by the proteasome. In applying rigid rules, however, quality control sometimes discharges proteins that,
E. Bianchini, M. Fanin, K. Mamchaoui, R. Betto, D. Sandonà   +4 more
semanticscholar   +1 more source

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Human Genomics, 2018
Background Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background, and around 50% cases lacking ...
Jakub Piotr Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska-Chromik, Maria Jolanta Redowicz, Cezary Zekanowski   +6 more
doaj   +1 more source

LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing

Neurology: Genetics, 2015
In this issue of Neurology® Genetics, Endo et al.1 report 3 cases of limb-girdle muscular dystrophy (LGMD) phenotype with mental retardation or hyperCKemia found by next-generation sequencing (NGS) to have a variant in the POMGNT2 gene, which has so far ...
C. Angelini
semanticscholar   +1 more source

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

Annals of Clinical and Translational Neurology
Objective Limb girdle muscular dystrophies (LGMDs) are a group of genetically heterogeneous autosomal conditions with some degree of phenotypic homogeneity.
Shruthi Mohan, Shannon McNulty, Courtney Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers, Teagan Nunnery, Autumn Self, Brooke Palus, Svetlana Gorokhova, April Kennedy, Zhiyv Niu, Mridul Johari, Alassane Baneye Maiga, Kelly Macalalad, Amanda R. Clause, Jacques S. Beckmann, Lucas Bronicki, Sandra T. Cooper, Vijay S. Ganesh, Peter B. Kang, Akanchha Kesari, Monkol Lek, Jennifer Levy, Laura Rufibach, Marco Savarese, Melissa J. Spencer, Volker Straub, Giorgio Tasca, Conrad C. Weihl   +29 more
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Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

BMC Medical Genetics, 2019
Background Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle protein titin (TTN) are associated ...
Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel, Xue Zhang   +8 more
doaj   +1 more source