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[Four family members with proximal myotonic myopathy].
Tieleman AA, van der Velden MP, Visser MC, Wokke JH, Scheffer H, van Engelen BG. Tieleman AA, et al. Among authors: scheffer h. Ned Tijdschr Geneeskd. 2004 May 8;148(19):948-52. Ned Tijdschr Geneeskd. 2004. PMID: 15160562 Dutch.
A natural history study of late onset spinal muscular atrophy types 3b and 4.
Piepers S, van den Berg LH, Brugman F, Scheffer H, Ruiterkamp-Versteeg M, van Engelen BG, Faber CG, de Visser M, van der Pol WL, Wokke JH. Piepers S, et al. Among authors: scheffer h. J Neurol. 2008 Sep;255(9):1400-4. doi: 10.1007/s00415-008-0929-0. Epub 2008 Jun 30. J Neurol. 2008. PMID: 18575920
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: scheffer h. Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11. Eur J Neurol. 2015. PMID: 25960145
A case of neuromuscular mimicry.
Bos MM, Overeem S, van Engelen BG, Scheffer H, van den Elzen C, Ter Laak H, Lammens M, Schelhaas HJ, Zwarts MJ. Bos MM, et al. Among authors: scheffer h. Neuromuscul Disord. 2006 Aug;16(8):510-3. doi: 10.1016/j.nmd.2006.06.005. Epub 2006 Aug 21. Neuromuscul Disord. 2006. PMID: 16919950
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Leen WG, et al. Among authors: scheffer h. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
315 results