Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

Autor: Carole Harbulot, Stéphanie Paquay, Imen Dorboz, Samia Pichard, Agnès Bourillon, Jean-François Benoist, Claude Jardel, Hélène Ogier de Baulny, Odile Boespflug-Tanguy, Manuel Schiff

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 8-10 (2016)

Background: MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1. Objectives: To report transient neonatal renal findings in MEG

Externí odkaz: https://doaj.org/article/02278964e99742c586acb479b9591cc4

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

P.379 Fetal Acetylcholine Receptor Inactivation Syndrome (FARIS) : A potentially treatable autoimmune disorder mimicking a wide range of genetic neuromuscular conditions

Autor: C. Nguyen, A. Thieme, M. Chouchane, J. Leslie, Ulrike Schara, Angela Vincent, K. Roefke, S. Byun, H. Koelbel, Stéphanie Paquay, M. O'Rahelly, Dae-Seong Kim, Bruno Eymard, P. Van den Bergh, M. Fernandez-Garcia, N. Allen, Heinz Jungbluth, A. Hahn, C. Schneider-Gold, M. Henrich

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa1297d633da2f14d962e5f793a1834e

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis

Autor: Jean-François Benoist, Guy Touati, Nathalie Guffon, Isabelle Rouvet, Dries Dobbelaere, Cécile Acquaviva-Bourdain, Manuel Schiff, François Labarthe, Christine Vianey-Saban, Samia Pichard, Stéphanie Paquay, Pascale de Lonlay, Karine Mention, Monique Elmaleh-Bergès, Hélène Ogier de Baulny, Agnès Bourillon, Vassili Valayannopoulos, Alain Fouilhoux

Publikováno v: Journal of Inherited Metabolic Disease, Vol. 40, no.3, p. 415-422 (2017)
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2017, 40 (3), pp.415-422. ⟨10.1007/s10545-017-0021-y⟩

International audience; Background Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism. Neurological impairment may occur secondary to ketoacidotic episodes. However, we observed neuromotor abnormaliti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3e95690a6e31fc2412ae31343f873d7
https://hdl.handle.net/2078.1/194947

REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Autor: Laurent Servais, P. De Jonghe, C. Arnould, P. Van den Bergh, R. Van Coster, A. Maertens de Noordhout, J. Haan, Nicolas Deconinck, G. Remiche, L. De Meirleir, D. Beysen, S. Wanyama, P. Van Damme, Nathalie Goemans, C. Bleyenheuft, J. De Bleecker, Stéphanie Paquay

Publikováno v: Neuromuscular Disorders. 28:S116

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f77c8ad30dadf4bec2070ecb672b74c
https://doi.org/10.1016/j.nmd.2018.06.330