Browsing by Author Timmerman, Vincent

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Showing results 1 to 6 of 6
Issue DateTitleAuthor(s)Citation
2003Autosomal dominant inherited neuropathies with prominent sensory loss and mutilationsNicholson, Garth; Auer-Grumbach, M.; De Jonghe, Peter; Hartung, H.-P; Timmerman, Vincent; Verhoeven, Kristien; Wagner, K.; Concord Clinical School: ANZAC Research InstituteAutosomal dominant inherited neuropathies with prominent sensory loss and mutilations, Archives of Neurology, vol.60,(3),2003,pp 329-334
2004Dna/Rna Helicase Gene Mutations In A Form Of Juvenile Amyotrophic Lateral Sclerosis (Als4).Kennerson, Marina; Nicholson, Garth; Abel, Annette; Auer-Grumbach, M.; Bennett, Craig L.; Blair, Ian P.; Chance, Phillip; Chen, Ying-Zhang; Cornblath, David R.; De Jonghe, Peter; Dierick, Ines; Fischbeck, Kenneth H.; Griffin, John W.; Huynh, Huy M.; Irobi, J.; Puls, Imke; Rabin, Bruce A.; Timmerman, Vincent; Wagner, K.; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteDna/Rna Helicase Gene Mutations In A Form Of Juvenile Amyotrophic Lateral Sclerosis (Als4)., American Journal of Human Genetics, vol.74,(6),2004,pp 1128-1135
2002Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathyKennerson, Marina; Nicholson, Garth; Auer-Grumbach, M.; Brahmbhatt, Sonal; Dawkins, Jennifer L.; De Jonghe, P.; Hartung, H.-P; LeGuern, Eric; Timmerman, Vincent; Verhoeven, Kristien; Wagner, K.; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteExclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy, Neuromuscular Disorders, vol.12, 7-8,pp 656-658
2015Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathiesKennerson, Marina; Bervoets, Sven; Bichev, Stoyan; Chamova, Teodora; De Jonghe, P.; De Vriendt, Els; Jordanova, Albena; Kancheva, Dahlia; Litvinenko, Ivan; MacMillan, John; Mitev, Vanyo; Peeters, Kristien; Timmerman, Vincent; Tournev, Ivailo; Concord Clinical School: ANZAC Research InstituteNovel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies, Human Mutation, vol.36, 3, 2015,pp 287-291
2009Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKennerson, Marina; Nicholson, Garth; Baets, Jonathan; Berciano, Jose; Berneman, Zwi N.; Bienfait, Henriette; Claeys, Kristl; De Jonghe, Peter; De Veuster, Ilse; De Vriendt, Els; Garcia, Antonio; Lammens, Martin; Merory, John; Nelis, Eva; Storey, Elsdon; Timmerman, Vincent; Vance, Jefferey M.; Verhoeven, Kristien; Zuchner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstitutePhenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy, Brain, vol.132, 7, 2009,pp 1741-1752
2009A systematic comparison of all mutations in hereditary sensory neuropathy type i (HSAN I) reveals that the G387A mutation is not disease associatedNicholson, Garth; Hornemann, Thorsten; Penno, Anke; Richard, Stephane; Rotthier, Annelies; Timmerman, Vincent; Van Dijk, Fleur; Von Eckardstein, Arnold; Concord Clinical School: ANZAC Research InstituteA systematic comparison of all mutations in hereditary sensory neuropathy type i (HSAN I) reveals that the G387A mutation is not disease associated, Neurogenetics, vol.10, 2, 2009,pp 135-143