Acute management of a stroke-like episode in MELAS syndrome: What should we know?

Autor: Tirso González-Pinto González, Javier Almeida Velasco, Ana Moreno Estébanez, Garazi Agirre Beitia, Laura Cabral Martínez, Irene Díaz Cuervo, Amaia Martínez Arroyo

Publikováno v: eNeurologicalSci, Vol 20, Iss , Pp 100249- (2020)

Externí odkaz: https://doaj.org/article/ec007108cdca44d48ab3de1cc01a1624

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

Autor: Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Marta Bertoli, Alison Blain, Ana B. Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso-Pérez, Jonathan Baets, Nina Barisic, Alexandra Bastian, Sabine Borell, Teodora Chamova, Kristl Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem de Ridder, Jordi Díaz-Manera, Cristina Domínguez-González, Alexis Duncan, Hacer Durmus, Nagia A. Fahmy, Maria Elena Farrugia, Roberto Fernández-Torrón, Lidia Gonzalez-Quereda, Jana Haberlova, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, Ivonne Jerico Pascual, Solange Kapetanovic, Viktorija Kenina, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera-Pruszczyk, Richa Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munain, Wolfgang Loscher, Anna Lusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, Andrés Nascimento, Shahriar Nafissi, Shirin Omidi, Carlos Ortez, Stéphanie Paquay, Yann Pereon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, Iciar Sanchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang-Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan Vílchez, Katharina Vill, John Vissing, Carina Wallgren-Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub

Publikováno v: Genetics in medicine
Genetics in Medicine
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb0b77bdff412d8ddab3c132a95c157
https://repository.uantwerpen.be/docstore/d:irua:4405

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

Autor: W C G Truus Overweg-Plandsoen, Caroline Sewry, Christian de Goede, Penny Fallon, Michael Benatar, Sahar Mansour, Marianne de Visser, Matthew B. Harms, Matthew Pitt, John Nixon, Mariacristina Scoto, Amaia Martínez Arroyo, A. Reghan Foley, I Hadjikoumi, Adnan Y. Manzur, Sebahattin Cirak, Stephanie A. Robb, Michele L. Yang, Muhammad Al-Lozi, Francesco Muntoni, Aida Rodriguez Sanz, Anne M. Connolly, J. Paul Taylor, Majid Hafezparast, Eugenio Mercuri, Robert H. Baloh, Mary M. Reilly, Rahul Phadke, W K Kling Chong, Catherine McWilliam, Frank Baas, Mattia Calissano, Andrea Klein, Alexander M. Rossor

Publikováno v: Neurology, 84(7), 668-679. Lippincott Williams and Wilkins

OBJECTIVE\ud \ud To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.\ud \ud METHODS\ud \ud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1303ac9dc260f3bd67b2d38bd4d2511
http://sro.sussex.ac.uk/id/eprint/59198/1/F8BC7C65-CD15-4C7E-883B-7E02FDBF296F.pdf