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Mutations in SACS cause atypical and late-onset forms of ARSACS.
Baets J, Deconinck T, Smets K, Goossens D, Van den Bergh P, Dahan K, Schmedding E, Santens P, Rasic VM, Van Damme P, Robberecht W, De Meirleir L, Michielsens B, Del-Favero J, Jordanova A, De Jonghe P. Baets J, et al. Among authors: schmedding e. Neurology. 2010 Sep 28;75(13):1181-8. doi: 10.1212/WNL.0b013e3181f4d86c. Neurology. 2010. PMID: 20876471
Laing early-onset distal myopathy in a Belgian family.
Van den Bergh PY, Martin JJ, Lecouvet F, Udd B, Schmedding E. Van den Bergh PY, et al. Among authors: schmedding e. Acta Neurol Belg. 2014 Dec;114(4):253-6. doi: 10.1007/s13760-014-0298-7. Epub 2014 Apr 8. Acta Neurol Belg. 2014. PMID: 24710723
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.
Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer-Grumbach M, Kwon JM, FitzPatrick D, Schmedding E, De Vriendt E, Jacobs A, Van Gerwen V, Wagner K, Hartung HP, Timmerman V. Verhoeven K, et al. Among authors: schmedding e. Am J Hum Genet. 2003 Mar;72(3):722-7. doi: 10.1086/367847. Epub 2003 Jan 21. Am J Hum Genet. 2003. PMID: 12545426 Free PMC article.
Anti-epileptogenesis research: the clinical relevance.
Lagae L, Buyse G, Ceulemans B, Claeys P, Dedeurwaerdere S, de Meirleir L, Hauman R, Janssen A, Schmedding E, Verhelst H, Vonck K. Lagae L, et al. Among authors: schmedding e. Acta Neurol Belg. 2003 Jun;103(2):78-82. Acta Neurol Belg. 2003. PMID: 12892000 Review.
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. Lamont PJ, et al. Among authors: schmedding e. Hum Mutat. 2014 Jul;35(7):868-79. doi: 10.1002/humu.22553. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24664454 Free PMC article.
32 results