Results 31 to 40 of about 3,537,976 (165)

Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies [PDF]

, 2021
Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a cohort
Roberta Brusa, Piga, Daniela, Dilena, Robertino, Giacomo P. Comi, Nereo Bresolin, Denise Cassandrini, Comi, Giacomo P, Vincenzo Nigro, Daniela Piga, Robertino Dilena, Claudia Cinnante, Pagliarani, Serena, Corti, Stefania, Magri, Francesca, Serena Pagliarani, Nigro, Vincenzo, Bresolin, Nereo, Eleonora Mauri, Govoni, Alessandra, Stefania Corti, Monica Sciacco, Cassandrini, Denise, Mauri, Eleonora, Cinnante, Claudia, Brusa, Roberta, Michela Ripolone, Alessandra Govoni, Francesca Magri, Ripolone, Michela, Sciacco, Monica   +29 more
core   +2 more sources

An integrated diagnosis strategy for congenital myopathies [PDF]

, 2013
Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with
Reilich, P. (P), Bohm, J. (Johann), Brocard, J. (J), Gerard, M. (M), Feger, C. (C), Messaddeq, N. (Nadia), Kretz, C. (Christine), Karasoy, H. (H), Biancalana, V. (Valérie), Le Gras, S. (Stéphanie), Walter, M. (M) C. (C), Marty, I. (I), Jost, B. (Bernard), Monnier, N. (N), Vasli, N. (N), Lunardi, J. (J), Romero, N. (N) B. (B), Laporte, J. (Jocelyn), Malfatti, E. (E)   +18 more
core   +3 more sources

Genetic and Structural Variations in Czech Patients With Congenital Myopathies

Clinical Genetics
ABSTRACT Congenital myopathies (CMs) are a heterogeneous group of genetic muscle disorders characterized by hypotonia and muscle weakness, with pathogenic variants identified in at least 41 genes and inheritance patterns including autosomal dominant (AD), recessive (AR), and X‐linked (XL).
Zídková Jana, Lauerova Barbora, Mensova Livie, Kramářová Tereza, Kopčilová Johana, Réblová Kamila, Soukup Vodičková Magdaléna, Hujňáková Martina, Haberlova Jana, Rohlenova Marie, Mazanec Radim, Šoukalová Jana, Gaillyová Renata, Vyhnalkova Emilie, Balascakova Miroslava, Danhofer Pavlína, Juříková Lenka, Grecmalova Dagmar, Gregorova Andrea, Plevova Pavlina, Langova Martina, Honzik Tomas, Magner Martin, Klincová Martina, Solarova Pavla, Senkerikova Maria, Fajkusová Lenka   +26 more
openaire   +2 more sources

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Update on the genetics of congenital myopathies [PDF]

, 2019
The congenital myopathies form a large clinically and genetically heterogeneous group of disorders. Currently mutations in at least 27 different genes have been reported to cause a congenital myopathy, but the number is expected to increase due to the ...
Pelin, Katarina, Wallgren-Pettersson, Carina   +1 more
core   +1 more source

Mitochondria‐Targeted Nanotherapeutics: A Promising Strategy in Modulating Mitochondrial Function, Transfer, and Transplantation

Advanced Science, EarlyView.
This review summarizes the pathogenic role of mitochondria in diseases and highlights mitochondrial transfer and transplantation as emerging therapeutic strategies. It systematically discusses how nanomaterials are engineered to facilitate these processes, and critically examines the current challenges and future perspectives for their clinical ...
Yuanyuan Su, Zhiyan Gong, Jiao Mu, Lili Huang, Pengfei Yang, Chenli Zhang, Lingshan Zhao, Liling Yang, Jun Deng, Xiaohui Liao   +9 more
wiley   +1 more source

Muscle imaging in congenital myopathies.

, 2011
Congenital myopathies are a genetically heterogeneous group of early-onset myopathies classified according to the predominant histopathological findings in skeletal muscle.
Susana Quijano-Roy, Robert Y. Carlier, Fischer, Dirk, Quijano-Roy, Susana, Dirk Fischer, Carlier, Robert Y.   +5 more
core   +1 more source

Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era

Acta Neuropathologica Communications
Neuromuscular disorders (NMD) with neonatal or early infantile onset are usually severe and differ in symptoms, complications, and treatment options.
Mai Thao Bui, Gorka Fernández-Eulate, Teresinha Evangelista, Emmanuelle Lacène, Guy Brochier, Clémence Labasse, Angéline Madelaine, Anaïs Chanut, Maud Beuvin, Favienne Borsato-Levy, Valérie Biancalana, Giulia Barcia, Pascale De Lonlay, Jocelyn Laporte, Johann Böhm, Norma Beatriz Romero   +15 more
doaj   +1 more source

Structural, functional and molecular dynamics analysis of the native and mutated actin to study its effect on congenital myopathy

Journal of Biomolecular Structure and Dynamics, 2016
Structural, functional and molecular dynamics analysis of the native and mutated actin to study its effect on congenital ...
Parpizpour, Sepideh, Faeze, Sadat Mohajer, Khoshkhooy, Yazdi Mahsa, Razmara, Jafar, Omar, Mohd. Shahir Shamsir   +4 more
openaire   +3 more sources

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source