Logo Logo
Group by: Item Type | Date
Number of items: 3.

Journal article

Schiava, Marianela ORCID logoORCID: https://orcid.org/0000-0002-2709-265X; Ikenaga, Chiseko; Villar-Quiles, Rocío Nur; Caballero-Ávila, Marta ORCID logoORCID: https://orcid.org/0000-0001-9850-8504; Topf, Ana; Nishino, Ichizo ORCID logoORCID: https://orcid.org/0000-0001-9452-112X; Kimonis, Virginia; Udd, Bjarne; Schoser, Benedikt ORCID logoORCID: https://orcid.org/0000-0002-2757-8131; Zanoteli, Edmar ORCID logoORCID: https://orcid.org/0000-0002-4991-6760; Sgobbi Souza, Paulo Victor ORCID logoORCID: https://orcid.org/0000-0002-7416-7108; Tasca, Giorgio ORCID logoORCID: https://orcid.org/0000-0003-0849-9144; Lloyd, Thomas; Lopez-de Munain, Adolfo; Paradas, Carmen; Pegoraro, Elena ORCID logoORCID: https://orcid.org/0000-0002-7740-4156; Nadaj-Pakleza, Aleksandra; De Bleecker, Jan; Badrising, Umesh; Alonso-Jiménez, Alicia; Kostera-Pruszczyk, Anna; Miralles, Francesc; Shin, Jin-Hong ORCID logoORCID: https://orcid.org/0000-0002-5174-286X; Bevilacqua, Jorge Alfredo; Olivé, Montse; Vorgerd, Matthias; Kley, Rudi; Brady, Stefen; Williams, Timothy; Domínguez-González, Cristina ORCID logoORCID: https://orcid.org/0000-0001-5151-988X; Papadimas, George K.; Warman-Chardon, Jodi; Claeys, Kristl G. ORCID logoORCID: https://orcid.org/0000-0001-9937-443X; de Visser, Marianne; Muelas, Nuria; LaForet, Pascal; Malfatti, Edoardo; Alfano, Lindsay N. ORCID logoORCID: https://orcid.org/0000-0002-2263-7569; Nair, Sruthi S ORCID logoORCID: https://orcid.org/0000-0001-5463-5229; Manousakis, Georgios; Kushlaf, Hani A.; Harms, Matthew B.; Nance, Christopher; Ramos-Fransi, Alba; Rodolico, Carmelo; Hewamadduma, Channa; Cetin, Hakan ORCID logoORCID: https://orcid.org/0000-0001-9009-7261; García-García, Jorge; Pál, Endre; Farrugia, Maria Elena; Lamont, Phillipa J.; Quinn, Colin; Nedkova-Hristova, Velina; Peric, Stojan; Luo, Sushan ORCID logoORCID: https://orcid.org/0000-0002-9033-7568; Oldfors, Anders; Taylor, Kate; Ralston, Stuart; Stojkovic, Tanya; Weihl, Conrad ORCID logoORCID: https://orcid.org/0000-0002-3816-6124 and Diaz-Manera, Jordi ORCID logoORCID: https://orcid.org/0000-0003-2941-7988 (2022): Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study. In: Journal of Neurology, Neurosurgery & Psychiatry, Vol. 93, No. 10: pp. 1099-1111

Cruz, Pedro M. Rodriguez; Cossins, Judith; Estephan, Eduardo de Paula; Munell, Francina; Selby, Kathryn; Hirano, Michio; Maroofin, Reza; Mehrjardi, Mohammad Yahya Vahidi; Chow, Gabriel; Carr, Aisling; Manzur, Adnan; Robb, Stephanie; Munot, Pinki; Liu, Wei Wei; Banka, Siddharth; Fraser, Harry; De Goede, Christian; Zanoteli, Edmar; Reed, Umbertina Conti; Sage, Abigail; Gratacos, Margarida; Macaya, Alfons; Dusl, Marina; Senderek, Jan; Topf, Ana; Hofer, Monika; Knight, Ravi; Ramdas, Sithara; Jayawant, Sandeep; Lochmüller, Hans; Palace, Jacqueline and Beeson, David (2019): The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations. In: Brain, Vol. 142: pp. 1547-1560

Wiessner, Manuela; Roos, Andreas; Munn, Christopher J.; Viswanathan, Ranjith; Whyte, Tamieka; Cox, Dan; Schoser, Benedikt; Sewry, Caroline; Roper, Helen; Phadke, Rahul; Bettolo, Chiara Marini; Barresi, Rita; Charlton, Richard; Bönnemann, Carsten G.; Neto, Osorio Abath; Reed, Umbertina C.; Zanoteli, Edmar; Moreno, Cristiane Araujo Martins; Ertl-Wagner, Birgit; Stucka, Rolf; Goede, Christian de; Silva, Tamiris Borges da; Hathazi, Denisa; Dell'Aica, Margherita; Zahedi, Rene P.; Thiele, Simone; Müller, Juliane; Kingston, Helen; Müller, Susanna; Curtis, Elizabeth; Walter, Maggie C.; Strom, Tim M.; Straub, Volker; Bushby, Kate; Muntoni, Francesco; Swan, Laura E.; Lochmüller, Hanns and Senderek, Jan (2017): Mutations in INPPSK, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. In: American Journal of Human Genetics, Vol. 100, No. 3: pp. 523-536 [PDF, 2MB]

This list was generated on Sun Jun 16 09:54:03 2024 CEST.