Manifestations of Intellectual Disability, Dystonia, and Parkinson’s Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)

Autor: Maria Arvio, Jaana Lähdetie, Hannu Koivu, Antti Sohlberg, Eero Pekkonen

Publikováno v: Case Reports in Genetics, Vol 2023 (2023)

We describe a 38-year-old male patient with intellectual disability and progressive motor symptoms who lacked an etiological diagnosis for many years. Finally, clinical exome sequencing showed a likely pathogenic variant of the ARX gene suggesting Pa

Externí odkaz: https://doaj.org/article/d3b318f73b10414bb444518a430a9c41

Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome

Autor: Maria Arvio, Maria Haanpää, Pia Pohjola, Jaana Lähdetie

Publikováno v: Clinical Case Reports, Vol 9, Iss 8, Pp n/a-n/a (2021)

Abstract Exome sequencing revealed the cause of our 35‐year‐old male patient's progressive and severe intellectual and motor disability, namely a previously undescribed missense mutation of MECP2.

Externí odkaz: https://doaj.org/article/93e9b53cbc4b493e904e6bc88fff204d

Natural history of alpha‐thalassemia X‐linked intellectual disability syndrome: A case report of a 45‐year‐old man

Autor: Maria Arvio, Jaana Lähdetie

Publikováno v: American Journal of Medical Genetics Part A. 185:2164-2167

We have followed the clinical course of a 45-year-old man with a severe form of alpha-thalassemia X-linked intellectual disability syndrome for 40 years. The most challenging health issue is the combination of rumination, drooling, and vomiting. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a0be2079ff201afc26c9ac6d943447
https://doi.org/10.1002/ajmg.a.62213

Non-invasive therapeutic brain stimulation for treatment of resistant focal epilepsy in a teenager

Autor: Jaana Lähdetie, Satu K. Jääskeläinen, Janne Nordberg, Miguel Muñoz-Ruiz

Publikováno v: Clinical Neurophysiology Practice, Vol 5, Iss, Pp 142-146 (2020)
Clinical Neurophysiology Practice

Highlights • rTMS and tDCS could be more often used for treatment-resistant focal epilepsy and tinnitus. • tDCS can be used as maintenance treatment after initial successful rTMS treatment. • rTMS and tDCS are safe in adolescents when current s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f3137be8048de402fde8d4ae794dd6c
http://www.sciencedirect.com/science/article/pii/S2467981X20300238

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