Results 1 to 10 of about 35,552 (199)

Autophagy increase in Merosin-Deficient Congenital Muscular Dystrophy type 1A [PDF]

European Journal of Translational Myology, 2023
The autophagy process recycles dysfunctional cellular components and protein aggregates by sequestering them in autophagosomes directed to lysosomes for enzymatic degradation.
Mariangela Mastrapasqua, Roberta Rossi, Lucrezia De Cosmo, Annalisa Resta, Mariella Errede, Antonella Bizzoca, Stefania Zampatti, Nicoletta Resta, Emiliano Giardina, Maddalena Ruggieri, Daniela Virgintino, Tiziana Annese, Nicola Laforgia, Francesco Girolamo   +13 more
doaj   +2 more sources

Fukuyama Congenital Muscular Dystrophy. [PDF]

Cureus, 2022
Congenital muscular dystrophy (CMD) is a heterogeneous group of neurological disorders presenting at birth with weakness and hypotonia. Although the diagnosis is finally made through patterns of inheritance and muscle biopsy, the final imaging can be very characteristic in some of the variants, particularly the Fukuyama type of CMD (FCMD). We described
Agarwal A, Sabat S, Kanekar S.
europepmc   +4 more sources

Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients [PDF]

Frontiers in Genetics, 2023
Background: Merosin-deficient congenital muscular dystrophy type 1A (MDC1A), also known as laminin-α2 chain-deficient congenital muscular dystrophy (LAMA2-MD), is an autosomal recessive disease caused by biallelic variants in the LAMA2 gene.
Van Khanh Tran, Ngoc-Lan Nguyen, Lan Ngoc Thi Tran, Phuong Thi Le, Anh Hai Tran, Tuan L. A. Pham, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Tat Thanh, Thanh Van Ta, Thanh Van Ta, Thinh Huy Tran, Thinh Huy Tran, Huy-Hoang Nguyen, Huy-Hoang Nguyen   +14 more
doaj   +2 more sources

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy [PDF]

Frontiers in Genetics, 2021
Merosine deficient congenital muscular dystrophy is one of the most common forms of congenital muscular dystrophy. This disease is caused by a primary deficiency or a functionally inactive form of the protein merosin in muscle tissue.
P. A. Chausova, O. P. Ryzhkova, G. E. Rudenskaya, V. B. Chernykh, O. A. Shchagina, A. V. Polyakov   +5 more
doaj   +2 more sources

Congenital Muscular Dystrophy

Annals of Indian Academy of Neurology, 2005
Khadilkar SV, Patil SG
doaj   +4 more sources

Transgenic Rescue of the LARGEmyd Mouse: A LARGE Therapeutic Window? [PDF]

, 2016
LARGE is a glycosyltransferase involved in glycosylation of α-dystroglycan (α-DG). Absence of this protein in the LARGEmyd mouse results in α-DG hypoglycosylation, and is associated with central nervous system abnormalities and progressive muscular ...
A Brancaccio, A von Renesse, A Yoshida, AK Marrone, AM Beedle, AS Pawlisz, Atsushi Asakura, B Constantin, C Whitmore, CJ Moore, D Beltran-Valero de Bernabe, D. J. Wells, DE Michele, DJ Lefeber, E. Lacey, EL McDearmon, F Saito, H. Booler, J Liu, J van Reeuwijk, J. C. W. Hildyard, JM Ervasti, JS Satz, K Kobayashi, K Koehler, KG Meilleur, KJ Carss, KM Wright, LT Guo, M Bozzi, M Brockington, M Kanagawa, M Ogawa, M. Hopkinson, MD Henry, MD Henry, MM Goddeeris, MR Ackroyd, MR Ackroyd, MT Garcia-Silva, O Ibraghimov-Beskrovnaya, O Thompson, P Zhang, PJ Holzfeind, PK Grewal, R Barone, R Barresi, R Shaheen, S Sugita, S Vuillaumier-Barrot, S. C. Brown, T Roscioli, T Toda, T Willer, Y Omori   +54 more
core   +22 more sources

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

Frontiers in Genetics, 2023
Background: Laminopathies are caused by rare alterations in LMNA, leading to a wide clinical spectrum. Though muscular dystrophy begins at early ages, disease progression is different in each patient. We investigated variability in laminopathy phenotypes
Sergi Cesar, Sergi Cesar, Sergi Cesar, Monica Coll, Monica Coll, Victoria Fiol, Victoria Fiol, Victoria Fiol, Anna Fernandez-Falgueras, Anna Fernandez-Falgueras, Jose Cruzalegui, Jose Cruzalegui, Jose Cruzalegui, Anna Iglesias, Anna Iglesias, Isaac Moll, Isaac Moll, Isaac Moll, Alexandra Perez-Serra, Alexandra Perez-Serra, Estefanía Martínez-Barrios, Estefanía Martínez-Barrios, Estefanía Martínez-Barrios, Carles Ferrer-Costa, Carles Ferrer-Costa, Bernat del Olmo, Bernat del Olmo, Marta Puigmulè, Marta Puigmulè, Marta Puigmulè, Mireia Alcalde, Mireia Alcalde, Laura Lopez, Laura Lopez, Ferran Pico, Ferran Pico, Rubén Berrueco, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Daniel Natera-de Benito, Daniel Natera-de Benito, Laura Carrera-García, Laura Carrera-García, Jessica Exposito-Escudero, Jessica Exposito-Escudero, Carlos Ortez, Carlos Ortez, Andrés Nascimento, Andrés Nascimento, Andrés Nascimento, Ramon Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano   +68 more
doaj   +1 more source

Genetics and muscle pathology in the diagnosis of muscular dystrophies: An update

Indian Journal of Pathology and Microbiology, 2022
Muscular dystrophies are a clinically and genetically heterogeneous group of disorders involving the skeletal muscles. They have a progressive clinical course and are characterized by muscle fiber degeneration.
Deepti Narasimhaiah, Megha S Uppin, Prajnya Ranganath   +2 more
doaj   +1 more source

Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring

Molecular Therapy: Methods & Clinical Development, 2020
Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou, Leonidas A. Phylactou   +1 more
doaj   +1 more source

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses [PDF]

, 2015
Background: Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population.
Back, Willem, Bastiaansen, John WM, Boegheim, Iris JM, Dibbits, Bert W, Ducro, Bart J, Hellinga, Ids, Leegwater, Peter AJ, Monroe, Glen R, Nijman, Isaac J, Schurink, Anouk, van Steenbeek, Frank G, Vos-Loohuis, Manon   +11 more
core   +8 more sources