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Page 1
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.
Al Khleifat A, Iacoangeli A, van Vugt JJFA, Bowles H, Moisse M, Zwamborn RAJ, van der Spek RAA, Shatunov A, Cooper-Knock J, Topp S, Byrne R, Gellera C, López V, Jones AR, Opie-Martin S, Vural A, Campos Y, van Rheenen W, Kenna B, Van Eijk KR, Kenna K, Weber M, Smith B, Fogh I, Silani V, Morrison KE, Dobson R, van Es MA, McLaughlin RL, Vourc'h P, Chio A, Corcia P, de Carvalho M, Gotkine M, Panades MP, Mora JS, Shaw PJ, Landers JE, Glass JD, Shaw CE, Basak N, Hardiman O, Robberecht W, Van Damme P, van den Berg LH, Veldink JH, Al-Chalabi A. Al Khleifat A, et al. Among authors: de carvalho m. NPJ Genom Med. 2022 Jan 28;7(1):8. doi: 10.1038/s41525-021-00267-9. NPJ Genom Med. 2022. PMID: 35091648 Free PMC article.
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis:; Andersen PM, Abrahams S, Borasio GD, de Carvalho M, Chio A, Van Damme P, Hardiman O, Kollewe K, Morrison KE, Petri S, Pradat PF, Silani V, Tomik B, Wasner M, Weber M. EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis:, et al. Among authors: de carvalho m. Eur J Neurol. 2012 Mar;19(3):360-75. doi: 10.1111/j.1468-1331.2011.03501.x. Epub 2011 Sep 14. Eur J Neurol. 2012. PMID: 21914052
Respiratory exercise in amyotrophic lateral sclerosis.
Pinto S, Swash M, de Carvalho M. Pinto S, et al. Among authors: de carvalho m. Amyotroph Lateral Scler. 2012 Jan;13(1):33-43. doi: 10.3109/17482968.2011.626052. Amyotroph Lateral Scler. 2012. PMID: 22214352 Clinical Trial.
Controversies and priorities in amyotrophic lateral sclerosis.
Turner MR, Hardiman O, Benatar M, Brooks BR, Chio A, de Carvalho M, Ince PG, Lin C, Miller RG, Mitsumoto H, Nicholson G, Ravits J, Shaw PJ, Swash M, Talbot K, Traynor BJ, Van den Berg LH, Veldink JH, Vucic S, Kiernan MC. Turner MR, et al. Among authors: de carvalho m. Lancet Neurol. 2013 Mar;12(3):310-22. doi: 10.1016/S1474-4422(13)70036-X. Lancet Neurol. 2013. PMID: 23415570 Free PMC article. Review.
Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis.
Lehnert S, Costa J, de Carvalho M, Kirby J, Kuzma-Kozakiewicz M, Morelli C, Robberecht W, Shaw P, Silani V, Steinacker P, Tumani H, Van Damme P, Ludolph A, Otto M. Lehnert S, et al. Among authors: de carvalho m. Amyotroph Lateral Scler Frontotemporal Degener. 2014 Sep;15(5-6):344-50. doi: 10.3109/21678421.2014.884592. Epub 2014 Feb 28. Amyotroph Lateral Scler Frontotemporal Degener. 2014. PMID: 24575871
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen PM, Kubisch C. Akimoto C, et al. Among authors: de carvalho m. J Med Genet. 2014 Jun;51(6):419-24. doi: 10.1136/jmedgenet-2014-102360. Epub 2014 Apr 4. J Med Genet. 2014. PMID: 24706941 Free PMC article.
Tracking motor neuron loss in a set of six muscles in amyotrophic lateral sclerosis using the Motor Unit Number Index (MUNIX): a 15-month longitudinal multicentre trial.
Neuwirth C, Barkhaus PE, Burkhardt C, Castro J, Czell D, de Carvalho M, Nandedkar S, Stålberg E, Weber M. Neuwirth C, et al. Among authors: de carvalho m. J Neurol Neurosurg Psychiatry. 2015 Nov;86(11):1172-9. doi: 10.1136/jnnp-2015-310509. Epub 2015 May 2. J Neurol Neurosurg Psychiatry. 2015. PMID: 25935892
A randomized, placebo-controlled, double-blind phase IIb trial evaluating the safety and efficacy of tirasemtiv in patients with amyotrophic lateral sclerosis.
Shefner JM, Wolff AA, Meng L, Bian A, Lee J, Barragan D, Andrews JA; BENEFIT-ALS Study Group. Shefner JM, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2016 Jul-Aug;17(5-6):426-435. doi: 10.3109/21678421.2016.1148169. Epub 2016 Mar 16. Amyotroph Lateral Scler Frontotemporal Degener. 2016. PMID: 26982815 Clinical Trial.
1,285 results