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Page 1
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V. Verhoeven K, et al. Among authors: verellen c. Brain. 2006 Aug;129(Pt 8):2093-102. doi: 10.1093/brain/awl126. Epub 2006 May 19. Brain. 2006. PMID: 16714318
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
Irobi J, Van den Bergh P, Merlini L, Verellen C, Van Maldergem L, Dierick I, Verpoorten N, Jordanova A, Windpassinger C, De Vriendt E, Van Gerwen V, Auer-Grumbach M, Wagner K, Timmerman V, De Jonghe P. Irobi J, et al. Among authors: verellen c. Brain. 2004 Sep;127(Pt 9):2124-30. doi: 10.1093/brain/awh232. Epub 2004 Jul 8. Brain. 2004. PMID: 15242882
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V. Nelis E, et al. Among authors: verellen c. Neurology. 2002 Dec 24;59(12):1865-72. doi: 10.1212/01.wnl.0000036272.36047.54. Neurology. 2002. PMID: 12499475
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Windpassinger C, et al. Among authors: verellen c. Nat Genet. 2004 Mar;36(3):271-6. doi: 10.1038/ng1313. Epub 2004 Feb 22. Nat Genet. 2004. PMID: 14981520
Tibial muscular dystrophy in a Belgian family.
Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B. Van den Bergh PY, et al. Among authors: verellen c. Ann Neurol. 2003 Aug;54(2):248-51. doi: 10.1002/ana.10647. Ann Neurol. 2003. PMID: 12891679
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. Jais JP, et al. Among authors: verellen c. J Am Soc Nephrol. 2000 Apr;11(4):649-657. doi: 10.1681/ASN.V114649. J Am Soc Nephrol. 2000. PMID: 10752524
A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
Rampoldi L, Dobson-Stone C, Rubio JP, Danek A, Chalmers RM, Wood NW, Verellen C, Ferrer X, Malandrini A, Fabrizi GM, Brown R, Vance J, Pericak-Vance M, Rudolf G, Carrè S, Alonso E, Manfredi M, Németh AH, Monaco AP. Rampoldi L, et al. Among authors: verellen c. Nat Genet. 2001 Jun;28(2):119-20. doi: 10.1038/88821. Nat Genet. 2001. PMID: 11381253
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
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