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SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
Synofzik M, Smets K, Mallaret M, Di Bella D, Gallenmüller C, Baets J, Schulze M, Magri S, Sarto E, Mustafa M, Deconinck T, Haack T, Züchner S, Gonzalez M, Timmann D, Stendel C, Klopstock T, Durr A, Tranchant C, Sturm M, Hamza W, Nanetti L, Mariotti C, Koenig M, Schöls L, Schüle R, de Jonghe P, Anheim M, Taroni F, Bauer P. Synofzik M, et al. Among authors: baets j. Brain. 2016 May;139(Pt 5):1378-93. doi: 10.1093/brain/aww079. Epub 2016 Apr 17. Brain. 2016. PMID: 27086870 Free PMC article.
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.
Beetz C, Schüle R, Deconinck T, Tran-Viet KN, Zhu H, Kremer BP, Frints SG, van Zelst-Stams WA, Byrne P, Otto S, Nygren AO, Baets J, Smets K, Ceulemans B, Dan B, Nagan N, Kassubek J, Klimpe S, Klopstock T, Stolze H, Smeets HJ, Schrander-Stumpel CT, Hutchinson M, van de Warrenburg BP, Braastad C, Deufel T, Pericak-Vance M, Schöls L, de Jonghe P, Züchner S. Beetz C, et al. Among authors: baets j. Brain. 2008 Apr;131(Pt 4):1078-86. doi: 10.1093/brain/awn026. Epub 2008 Mar 5. Brain. 2008. PMID: 18321925 Free PMC article.
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Dierick I, Baets J, Irobi J, Jacobs A, De Vriendt E, Deconinck T, Merlini L, Van den Bergh P, Rasic VM, Robberecht W, Fischer D, Morales RJ, Mitrovic Z, Seeman P, Mazanec R, Kochanski A, Jordanova A, Auer-Grumbach M, Helderman-van den Enden AT, Wokke JH, Nelis E, De Jonghe P, Timmerman V. Dierick I, et al. Among authors: baets j. Brain. 2008 May;131(Pt 5):1217-27. doi: 10.1093/brain/awn029. Epub 2008 Mar 5. Brain. 2008. PMID: 18325928
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias.
Harbo HF, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen C, Zeviani M, Burgunder JM, Gasser T; EFNS. Harbo HF, et al. Among authors: baets j. Eur J Neurol. 2009 Jul;16(7):777-85. doi: 10.1111/j.1468-1331.2009.02646.x. Epub 2009 May 12. Eur J Neurol. 2009. PMID: 19469830
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Claeys KG, Züchner S, Kennerson M, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, De Vriendt E, Berneman ZN, De Veuster I, Vance JM, Nicholson G, Timmerman V, De Jonghe P. Claeys KG, et al. Among authors: baets j. Brain. 2009 Jul;132(Pt 7):1741-52. doi: 10.1093/brain/awp115. Epub 2009 Jun 5. Brain. 2009. PMID: 19502294 Free PMC article.
The SCN1A variant database: a novel research and diagnostic tool.
Claes LR, Deprez L, Suls A, Baets J, Smets K, Van Dyck T, Deconinck T, Jordanova A, De Jonghe P. Claes LR, et al. Among authors: baets j. Hum Mutat. 2009 Oct;30(10):E904-20. doi: 10.1002/humu.21083. Hum Mutat. 2009. PMID: 19585586
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P, Timmerman V. Rotthier A, et al. Among authors: baets j. Brain. 2009 Oct;132(Pt 10):2699-711. doi: 10.1093/brain/awp198. Epub 2009 Aug 3. Brain. 2009. PMID: 19651702 Free PMC article.
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS. Gasser T, et al. Among authors: baets j. Eur J Neurol. 2010 Feb;17(2):179-88. doi: 10.1111/j.1468-1331.2009.02873.x. Epub 2009 Dec 28. Eur J Neurol. 2010. PMID: 20050888
168 results