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203 results

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Page 1
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: vorgerd m. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.
Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM. Zhang Q, et al. Among authors: vorgerd m. Hum Mol Genet. 2007 Dec 1;16(23):2816-33. doi: 10.1093/hmg/ddm238. Epub 2007 Aug 29. Hum Mol Genet. 2007. PMID: 17761684
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).
Scalco RS, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, Toscano A, Musumeci O, Voermans NC, Kouwenberg CV, Laforêt P, San-Millán B, Vieitez I, Siciliano G, Kühnle E, Trost R, Sacconi S, Stemmerik MG, Durmus H, Kierdaszuk B, Wakelin A, Andreu AL, Pinós T, Marti R, Quinlivan R, Vissing J; EUROMAC Consortium. Scalco RS, et al. Orphanet J Rare Dis. 2020 Nov 24;15(1):330. doi: 10.1186/s13023-020-01562-x. Orphanet J Rare Dis. 2020. PMID: 33234167 Free PMC article.
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry).
Pinós T, Andreu AL, Bruno C, Hadjigeorgiou GM, Haller RG, Laforêt P, Lucía A, Martín MA, Martinuzzi A, Navarro C, Oflazer P, Pouget J, Quinlivan R, Sacconi S, Scalco RS, Toscano A, Vissing J, Vorgerd M, Wakelin A, Martí R; EUROMAC Consortium. Pinós T, et al. Among authors: vorgerd m. Orphanet J Rare Dis. 2020 Oct 15;15(1):187. doi: 10.1186/s13023-020-01455-z. Orphanet J Rare Dis. 2020. PMID: 33054807 Free PMC article.
Assessing axonal pathology and disease progression in chronic inflammatory demyelinating polyneuropathy using corneal confocal microscopy.
Klimas R, Sturm D, Altenborg A, Stylianou N, Huckemann S, Gasz Z, Grüter T, Philipps J, Greiner T, Maier C, Eitner L, Enax-Krumova E, Vorgerd M, Schwenkreis P, Gold R, Fisse AL, Motte J, Pitarokoili K. Klimas R, et al. Among authors: vorgerd m. J Neurol. 2024 Dec 12;272(1):51. doi: 10.1007/s00415-024-12812-4. J Neurol. 2024. PMID: 39666102 Free PMC article.
203 results