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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: harms mb. 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.
Multifocal radiculoneuropathy during ipilimumab treatment of melanoma.
Manousakis G, Koch J, Sommerville RB, El-Dokla A, Harms MB, Al-Lozi MT, Schmidt RE, Pestronk A. Manousakis G, et al. Among authors: harms mb. Muscle Nerve. 2013 Sep;48(3):440-4. doi: 10.1002/mus.23830. Epub 2013 Jul 27. Muscle Nerve. 2013. PMID: 23447136
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.
Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evilä A, Hackman P, Udd B, Harms MB, Weihl CC. Bucelli RC, et al. Among authors: harms mb. Neurology. 2015 Aug 25;85(8):665-74. doi: 10.1212/WNL.0000000000001864. Epub 2015 Jul 24. Neurology. 2015. PMID: 26208961 Free PMC article.
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.
Güttsches AK, Brady S, Krause K, Maerkens A, Uszkoreit J, Eisenacher M, Schreiner A, Galozzi S, Mertens-Rill J, Tegenthoff M, Holton JL, Harms MB, Lloyd TE, Vorgerd M, Weihl CC, Marcus K, Kley RA. Güttsches AK, et al. Among authors: harms mb. Ann Neurol. 2017 Feb;81(2):227-239. doi: 10.1002/ana.24847. Epub 2017 Jan 27. Ann Neurol. 2017. PMID: 28009083 Free PMC article.
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M, Ikenaga C, Topf A, Caballero-Ávila M, Chou TF, Li S, Wang F, Daw J, Stojkovic T, Villar-Quiles R, Nishino I, Inoue M, Nishimori Y, Saito Y, Katsuno M, Noda S, Ito C, Otsuka M, Nahir S, Manousakis G, Walk D, Quinn C, Alfano L, Sahenk Z, Tasca G, Monforte M, Sabatelli M, Bisogni G, Oldfors A, Rydeliu A, Pal E, Paradas C, Velez B, De Bleecker JL, Farugia ME, Longman C, Harms MB, Ralston S, Zanoteli E, Macedo Serafim da Silva A, Sotoca J, Juntas-Morales R, Bevilacqua J, Balart M, Talbot S, Straub V, Guglieri M, Marini-Bettolo C, Diaz-Manera J, Weihl CC. Schiava M, et al. Among authors: harms mb. Neurol Genet. 2023 Aug 15;9(5):e200093. doi: 10.1212/NXG.0000000000200093. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37588275 Free PMC article.
Autophagic vacuolar pathology in desminopathies.
Weihl CC, Iyadurai S, Baloh RH, Pittman SK, Schmidt RE, Lopate G, Pestronk A, Harms MB. Weihl CC, et al. Among authors: harms mb. Neuromuscul Disord. 2015 Mar;25(3):199-206. doi: 10.1016/j.nmd.2014.12.002. Epub 2014 Dec 12. Neuromuscul Disord. 2015. PMID: 25557463 Free PMC article.
Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.
Scoto M, Rossor AM, Harms MB, Cirak S, Calissano M, Robb S, Manzur AY, Martínez Arroyo A, Rodriguez Sanz A, Mansour S, Fallon P, Hadjikoumi I, Klein A, Yang M, De Visser M, Overweg-Plandsoen WC, Baas F, Taylor JP, Benatar M, Connolly AM, Al-Lozi MT, Nixon J, de Goede CG, Foley AR, Mcwilliam C, Pitt M, Sewry C, Phadke R, Hafezparast M, Chong WK, Mercuri E, Baloh RH, Reilly MM, Muntoni F. Scoto M, et al. Among authors: harms mb. Neurology. 2015 Feb 17;84(7):668-79. doi: 10.1212/WNL.0000000000001269. Epub 2015 Jan 21. Neurology. 2015. PMID: 25609763 Free PMC article.
86 results