Results 51 to 60 of about 1,125 (172)

Contribuição ao estudo das doenças hereditárias

Memorias do Instituto Oswaldo Cruz, 1945
Em revisão de conhecimentos sobre doenças hereditárias foi verificada em várias dessas heredopatias (anemia de hemátias em alvo, icterícia hemolítica heredo-familiar. anemia ovalocítica, anemia perniciosa de BIERMER, trombopatia constitucional, distrofia
Ernani Martins da Silva
doaj   +1 more source

Factors of Importance for Continuing Education After Primary School in Young People With Neuromuscular Diseases—Patient‐Reported Outcomes From a National Survey

International Journal of Pediatrics, Volume 2025, Issue 1, 2025.
Rationale: Young people with neuromuscular diseases (NMDs) are especially at risk of being absent from school because of various symptoms, consequences of their disease, and frequent hospital visits. Growing up with a chronic disease can entail an increased risk of poor educational outcomes. Aims: The study is aimed to investigate factors of importance
Charlotte Handberg, Kristin Allergodt, Annette Mahoney, Ann-Lisbeth Højberg, Somashekhar Marutirao Nimbalkar   +4 more
wiley   +1 more source

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source

Temperature-sensitive Mutations in the Iii-iv-cytoplasmic Loop Region of the Skeletal-muscle Sodium-channel Gene in Paramyotonia-congenita

, 1992
Paramyotonia congenita (PMC), a dominant disorder featuring cold-induced myotonia (muscle stiffness), has recently been genetically linked to a candidate gene, the skeletal muscle sodium channel gene SCN4A.
Rao, K., McKenna-Yasek, Diane, Rao, Keshav, Brown, Robert H, Gusella, James F, Pericakvance, MA., Raskind, W., Dumoulin, Christine, Raskind, Wendy, Mcclatchey, AI., Van den Bergh, Peter, Mckennayasek, D., Haines, JL., Brown, RH., Gusella, JF., Bird, Thomas, Haines, Jonathan L, Pericak-Vance, Margaret A, Bird, T., McClatchey, Andrea I, Verellen, Christine   +20 more
core   +1 more source

Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier

Muscle &Nerve, Volume 70, Issue 2, Page 240-247, August 2024.
Abstract Introduction/Aims Myotonia congenita (MC) is the most common hereditary channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as either an autosomal dominant (Thomsen) or a recessive (Becker) disorder. MC is caused by variants in the voltage‐gated chloride channel 1 (CLCN1) gene, important for the normal ...
Nikolaos M. Marinakis, Maria Svingou, Giorgos‐Konstantinos Papadimas, Constantinos Papadopoulos, Elisabeth Chroni, Roser Pons, Evangelos Pavlou, Ioannis Sarmas, Konstantina Kosma, Paraskevi Apostolou, Christalena Sofocleous, Joanne Traeger‐Synodinos, Kyriaki Kekou   +12 more
wiley   +1 more source

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases

MedComm, Volume 5, Issue 7, July 2024.
The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng, Zhi‐Nan Chen, Huijie Bian   +2 more
wiley   +1 more source

A Paramyotonia Congenita Family with an R1448H Mutation in SCN4A [PDF]

Annals of Child Neurology, 2022
Yoo Jung Lee, Yoon Hee Jo, Young Mi Kim
doaj   +1 more source

Contractile properties and magnetic resonance imaging‐assessed fat replacement of muscles in myotonia congenita

European Journal of Neurology, Volume 31, Issue 4, April 2024.
Abstract Background and purpose Myotonia congenita (MC) is a muscle channelopathy in which pathogenic variants in a key sarcolemmal chloride channel Gene (CLCN1) cause myotonia. This study used muscle magnetic resonance imaging (MRI) to quantify contractile properties and fat replacement of muscles in a Danish cohort of MC patients. Methods Individuals
Laura Nørager Jacobsen, Mads Godtfeldt Stemmerik, Sofie Vinther Skriver, Jonas Jalili Pedersen, Nicoline Løkken, John Vissing   +5 more
wiley   +1 more source

A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

, 2017
Contains fulltext : 169698.pdf (Publisher’s version ) (Open Access)In sodium channelopathies, a severe fixed myopathy caused by a dominant mutation is rare.
Saris, C.G.J., Voermans, N.C., B. Kusters, E. Kamsteeg, Stunnenberg, B.C., Kusters, B., B. C. Stunnenberg, Kamsteeg, E.J., Groome, J., G. Meola, M. Bednarz, Bednarz, M., C. G. Saris, N. C. Voermans, Winston, V., Meola, G., J. Groome, V. Winston, Jurkat-Rott, K., K. Jurkat Rott   +19 more
core   +1 more source

Open-Label Trial of Ranolazine for the Treatment of Paramyotonia Congenita

, 2019
Introduction: Paramyotonia congenita (PMC) is a nondystrophic myotonic disorder that is believed to be caused by a defect in Na v 1.4 sodium channel inactivation. Ranolazine, which acts by enhancing slow inactivation of sodium channels, has been proposed
Bartlett, Amy, Lorusso, Samantha, Rich, Mark M., Hawash, Ahmed A., David Arnold, W., Freimer, Miriam, Agriesti, Julie, Kissel, John T., Kline, David   +8 more
core   +1 more source