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Year Number of Results
2004 4
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2007 6
2008 7
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2013 12
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304 results

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Page 1
Muscle cramps and contractures: causes and treatment.
Dijkstra JN, Boon E, Kruijt N, Brusse E, Ramdas S, Jungbluth H, van Engelen BGM, Walters J, Voermans NC. Dijkstra JN, et al. Among authors: voermans nc. Pract Neurol. 2023 Feb;23(1):23-34. doi: 10.1136/pn-2022-003574. Epub 2022 Dec 15. Pract Neurol. 2023. PMID: 36522175 Review.
The 2017 international classification of the Ehlers-Danlos syndromes.
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. Malfait F, et al. Among authors: voermans n. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306229
The Ehlers-Danlos syndromes, rare types.
Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. Brady AF, et al. Among authors: voermans n. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306225 Review.
Neurological and spinal manifestations of the Ehlers-Danlos syndromes.
Henderson FC Sr, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC. Henderson FC Sr, et al. Among authors: voermans nc. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):195-211. doi: 10.1002/ajmg.c.31549. Epub 2017 Feb 21. Am J Med Genet C Semin Med Genet. 2017. PMID: 28220607 Review.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. Altassan R, et al. Among authors: voermans n. J Inherit Metab Dis. 2021 Jan;44(1):148-163. doi: 10.1002/jimd.12286. Epub 2020 Sep 15. J Inherit Metab Dis. 2021. PMID: 32681750 Free PMC article. Review.
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR. Kushnir A, et al. Among authors: voermans nc. Acta Neuropathol. 2020 Jun;139(6):1089-1104. doi: 10.1007/s00401-020-02150-w. Epub 2020 Mar 31. Acta Neuropathol. 2020. PMID: 32236737 Free PMC article.
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ. Snoeck M, et al. Among authors: voermans nc. Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11. Eur J Neurol. 2015. PMID: 25960145
Different phenotypes in dermatomyositis associated with anti-MDA5 antibody: Study of 121 cases.
Allenbach Y, Uzunhan Y, Toquet S, Leroux G, Gallay L, Marquet A, Meyer A, Guillaud C, Limal N, Gagnadoux F, Hervier B, Borie R, Deligny C, Terrier B, Berezne A, Audia S, Champtiaux N, Devilliers H, Voermans N, Diot E, Servettaz A, Marhadour T, Castelain V, Humbert S, Blanchard-Delaunay C, Tieulie N, Charles P, Gerin M, Mekinian A, Priou P, Meurice JC, Tazi A, Cottin V, Miyara M, Grange B, Israël-Biet D, Phin-Huynh S, Bron C, De Saint Martin L, Fabien N, Mariampillai K, Nunes H, Benveniste O; French Myositis Network. Allenbach Y, et al. Among authors: voermans n. Neurology. 2020 Jul 7;95(1):e70-e78. doi: 10.1212/WNL.0000000000009727. Epub 2020 Jun 2. Neurology. 2020. PMID: 32487712 Free PMC article.
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. Among authors: voermans nc. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
304 results