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Vincent Timmerman

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Rotthier Annelies; Baets Jonathan; De Vriendt Els; Jacobs An; Auer-Grumbach Michaela; Lévy Nicolas; Bonello-Palot Nathalie; Kilic Sara Sebnem; Weis Joachim; Nascimento Andrés; Swinkels Marielle; Kruyt Moyo C; Jordanova Albena; De Jonghe Peter; Timmerman Vincent
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Claeys Kristl G; Züchner Stephan; Kennerson Marina; Berciano José; Garcia Antonio; Verhoeven Kristien; Storey Elsdon; Merory John R; Bienfait Henriette M E; Lammens Martin; Nelis Eva; Baets Jonathan; De Vriendt Els; Berneman Zwi N; De Veuster Ilse; Vance Jefferey M; Nicholson Garth; Timmerman Vincent; De Jonghe Peter
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Baets Jonathan; Dierick Ines; Groote Chantal Ceuterick-de; Ende Jenneke van den; Martin Jean-Jacques; Geens Karin; Robberecht Wim; Nelis Eva; Timmerman Vincent; Jonghe Peter De
Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.

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All Publications

2009: Rotthier Annelies; Baets Jonathan; De Vriendt Els; Jacobs An; Auer-Grumbach Michaela; Lévy Nicolas; Bonello-Palot Nathalie; Kilic Sara Sebnem; Weis Joachim; Nascimento Andrés; Swinkels Marielle; Kruyt Moyo C; Jordanova Albena; De Jonghe Peter; Timmerman Vincent
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
Brain : a journal of neurology 2009;132(Pt 10):2699-711.
2009: Claeys Kristl G; Züchner Stephan; Kennerson Marina; Berciano José; Garcia Antonio; Verhoeven Kristien; Storey Elsdon; Merory John R; Bienfait Henriette M E; Lammens Martin; Nelis Eva; Baets Jonathan; De Vriendt Els; Berneman Zwi N; De Veuster Ilse; Vance Jefferey M; Nicholson Garth; Timmerman Vincent; De Jonghe Peter
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Brain : a journal of neurology 2009;132(Pt 7):1741-52.
2009: Baets Jonathan; Dierick Ines; Groote Chantal Ceuterick-de; Ende Jenneke van den; Martin Jean-Jacques; Geens Karin; Robberecht Wim; Nelis Eva; Timmerman Vincent; Jonghe Peter De
Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.
Neuromuscular disorders : NMD 2009;19(2):172-5.
2008: Reddel S; Ouvrier R A; Nicholson G; Dierick I; Irobi J; Timmerman V; Ryan M M
Autosomal dominant congenital spinal muscular atrophy--a possible developmental deficiency of motor neurones?
Neuromuscular disorders : NMD 2008;18(7):530-5.
2008: Dierick Ines; Baets Jonathan; Irobi Joy; Jacobs An; De Vriendt Els; Deconinck Tine; Merlini Luciano; Van den Bergh Peter; Rasic Vedrana Milic; Robberecht Wim; Fischer Dirk; Morales Raul Juntas; Mitrovic Zoran; Seeman Pavel; Mazanec Radim; Kochanski Andrzej; Jordanova Albena; Auer-Grumbach Michaela; Helderman-van den Enden A T J M; Wokke John H J; Nelis Eva; De Jonghe Peter; Timmerman Vincent
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Brain : a journal of neurology 2008;131(Pt 5):1217-27.
2008: Auer-Grumbach M; Fischer C; Papic L; John E; Plecko B; Bittner R E; Bernert G; Pieber T R; Miltenberger G; Schwarz R; Windpassinger C; Grill F; Timmerman V; Speicher M R; Janecke A R
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Neuropediatrics 2008;39(1):33-8.
2007: Van Damme Philip; Bogaert Elke; Dewil Maarten; Hersmus Nicole; Kiraly Dora; Scheveneels Wendy; Bockx Ilse; Braeken Dries; Verpoorten Nathalie; Verhoeven Kristien; Timmerman Vincent; Herijgers Paul; Callewaert Geert; Carmeliet Peter; Van Den Bosch Ludo; Robberecht Wim
Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicity.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(37):14825-30.
2007: Dierick Ines; Irobi Joy; Janssens Sophie; Theuns Jessie; Lemmens Robin; Jacobs An; Corsmit Ellen; Hersmus Nicole; Van Den Bosch Ludo; Robberecht Wim; De Jonghe Peter; Van Broeckhoven Christine; Timmerman Vincent
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress response.
Human mutation 2007;28(8):830.
2007: Koop Olga; Schirmacher Anja; Nelis Eva; Timmerman Vincent; De Jonghe Peter; Ringelstein Bernd; Rasic Vedrana Milic; Evrard Philippe; Gärtner Jutta; Claeys Kristl G; Appenzeller Silke; Rautenstrauss Bernd; Hühne Kathrin; Ramos-Arroyo Maria A; Wörle Helmut; Moilanen Jukka S; Hammans Simon; Kuhlenbäumer Gregor
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Neuromuscular disorders : NMD 2007;17(8):624-30.
2007: Stendel Claudia; Roos Andreas; Deconinck Tine; Pereira Jorge; Castagner Francois; Niemann Axel; Kirschner Janbernd; Korinthenberg Rudolf; Ketelsen Uwe-Peter; Battaloglu Esra; Parman Yesim; Nicholson Garth; Ouvrier Robert; Seeger Jürgen; De Jonghe Peter; Weis Joachim; Krüttgen Alexander; Rudnik-Schöneborn Sabine; Bergmann Carsten; Suter Ueli; Zerres Klaus; Timmerman Vincent; Relvas João B; Senderek Jan
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
American journal of human genetics 2007;81(1):158-64.
2007: Bienfait H M E; Baas F; Koelman J H T M; de Haan R J; van Engelen B G M; Gabreëls-Festen A A W M; Ongerboer de Visser B W; Meggouh F; Weterman M A J; De Jonghe P; Timmerman V; de Visser M
Phenotype of Charcot-Marie-Tooth disease Type 2.
Neurology 2007;68(20):1658-67.
2007: Kennerson Marina L; Warburton Trent; Nelis Eva; Brewer Megan; Polly Patsie; De Jonghe Peter; Timmerman Vincent; Nicholson Garth A
Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.
Clinical chemistry 2007;53(2):349-52.
2006: Ivanova N; Löfgren A; Tournev I; Rousev R; Andreeva A; Jordanova A; Georgieva V; Deconinck T; Timmerman V; Kremensky I; De Jonghe P; Mitev V
Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.
Clinical genetics 2006;70(6):490-5.
2006: Verhoeven Kristien; Timmerman Vincent; Mauko Barbara; Pieber Thomas R; De Jonghe Peter; Auer-Grumbach Michaela
Recent advances in hereditary sensory and autonomic neuropathies.
Current opinion in neurology 2006;19(5):474-80.
2006: Coen K; Pareyson D; Auer-Grumbach M; Buyse G; Goemans N; Claeys K G; Verpoorten N; Laurà M; Scaioli V; Salmhofer W; Pieber T R; Nelis E; De Jonghe P; Timmerman V
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
Neurology 2006;66(5):748-51.
2006: Züchner Stephan; De Jonghe Peter; Jordanova Albena; Claeys Kristl G; Guergueltcheva Velina; Cherninkova Sylvia; Hamilton Steven R; Van Stavern Greg; Krajewski Karen M; Stajich Jeffery; Tournev Ivajlo; Verhoeven Kristien; Langerhorst Christine T; de Visser Marianne; Baas Frank; Bird Thomas; Timmerman Vincent; Shy Michael; Vance Jeffery M
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.
Annals of neurology 2006;59(2):276-81.
2006: Jordanova Albena; Irobi Joy; Thomas Florian P; Van Dijck Patrick; Meerschaert Kris; Dewil Maarten; Dierick Ines; Jacobs An; De Vriendt Els; Guergueltcheva Velina; Rao Chitharanjan V; Tournev Ivailo; Gondim Francisco A A; D'Hooghe Marc; Van Gerwen Veerle; Callaerts Patrick; Van Den Bosch Ludo; Timmermans Jean-Pièrre; Robberecht Wim; Gettemans Jan; Thevelein Johan M; De Jonghe Peter; Kremensky Ivo; Timmerman Vincent
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Nature genetics 2006;38(2):197-202.
2006: Verpoorten Nathalie; De Jonghe Peter; Timmerman Vincent
Disease mechanisms in hereditary sensory and autonomic neuropathies.
Neurobiology of disease 2006;21(2):247-55.
2006: Verpoorten Nathalie; Claeys Kristl G; Deprez Liesbet; Jacobs An; Van Gerwen Veerle; Lagae Lieven; Arts Willem Frans; De Meirleir Linda; Keymolen Kathelijn; Ceuterick-de Groote Chantal; De Jonghe Peter; Timmerman Vincent; Nelis Eva
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
Neuromuscular disorders : NMD 2006;16(1):19-25.
2006: Irobi Joy; Dierick Ines; Jordanova Albena; Claeys Kristl G; De Jonghe Peter; Timmerman Vincent
Unraveling the genetics of distal hereditary motor neuronopathies.
Neuromolecular medicine 2006;8(1-2):131-46.
2006: Timmerman Vincent; Lupski James R; De Jonghe Peter
Molecular genetics, biology, and therapy for inherited peripheral neuropathies.
Neuromolecular medicine 2006;8(1-2):1-2.
2005: Verpoorten Nathalie; Verhoeven Kristien; Weckx Stefan; Jacobs An; Serneels Sally; Del Favero Jurgen; Ceuterick Chantal; Van Bockstaele Dirk R; Berneman Zwi N; Van den Bosch Ludo; Robberecht Wim; Nobbio Lucilla; Schenone Angelo; Dessaud Eric; deLapeyrière Odile; Huylebroeck Danny; Zwijsen An; De Jonghe Peter; Timmerman Vincent
Synaptopodin and 4 novel genes identified in primary sensory neurons.
Molecular and cellular neurosciences 2005;30(3):316-25.
2005: Kuhlenbäumer Gregor; Hannibal Mark C; Nelis Eva; Schirmacher Anja; Verpoorten Nathalie; Meuleman Jan; Watts Giles D J; De Vriendt Els; Young Peter; Stögbauer Florian; Halfter Hartmut; Irobi Joy; Goossens Dirk; Del-Favero Jurgen; Betz Benjamin G; Hor Hyun; Kurlemann Gert; Bird Thomas D; Airaksinen Eila; Mononen Tarja; Serradell Adolfo Pou; Prats José M; Van Broeckhoven Christine; De Jonghe Peter; Timmerman Vincent; Ringelstein E Bernd; Chance Phillip F
Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Nature genetics 2005;37(10):1044-6.
2005: Koop Olga; Timmerman Vincent; de Jonghe Peter; Ringelstein Bernd; Young Peter; Kuhlenbäumer Gregor
Absence of mutations in the prion-protein gene in a large cohort of HMSN patients.
Neuromuscular disorders : NMD 2005;15(8):549-51.
2005: Vigo Tiziana; Nobbio Lucilla; Hummelen Paul Van; Abbruzzese Michele; Mancardi Gianluigi; Verpoorten Nathalie; Verhoeven Kristien; Sereda Michael W; Nave Klaus-Armin; Timmerman Vincent; Schenone Angelo
Experimental Charcot-Marie-Tooth type 1A: a cDNA microarrays analysis.
Molecular and cellular neurosciences 2005;28(4):703-14.
2005: Züchner Stephan; Noureddine Maher; Kennerson Marina; Verhoeven Kristien; Claeys Kristl; De Jonghe Peter; Merory John; Oliveira Sofia A; Speer Marcy C; Stenger Judith E; Walizada Gina; Zhu Danqing; Pericak-Vance Margaret A; Nicholson Garth; Timmerman Vincent; Vance Jeffery M
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease.
Nature genetics 2005;37(3):289-94.
2005: Dierick Ines; Irobi Joy; De Jonghe Peter; Timmerman Vincent
Small heat shock proteins in inherited peripheral neuropathies.
Annals of medicine 2005;37(6):413-22.
2004: Parman Yesim; Battaloglu Esra; Baris Ibrahim; Bilir Birdal; Poyraz Mürüvvet; Bissar-Tadmouri Nisrine; Williams Anna; Ammar Nadia; Nelis Eva; Timmerman Vincent; De Jonghe Peter; Najafov Ayaz; Deymeer Feza; Serdaroglu Piraye; Brophy Peter J; Said G
Clinicopathological and genetic study of early-onset demyelinating neuropathy.
Brain : a journal of neurology 2004;127(Pt 11):2540-50.
2004: Irobi Joy; De Jonghe Peter; Timmerman Vincent
Molecular genetics of distal hereditary motor neuropathies.
Human molecular genetics 2004;13 Spec No 2():R195-202.
2004: Irobi Joy; Van den Bergh Peter; Merlini Luciano; Verellen Christine; Van Maldergem Lionel; Dierick Ines; Verpoorten Nathalie; Jordanova Albena; Windpassinger Christian; De Vriendt Els; Van Gerwen Veerle; Auer-Grumbach Michaela; Wagner Klaus; Timmerman Vincent; De Jonghe Peter
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
Brain : a journal of neurology 2004;127(Pt 9):2124-30.
2004: Kuhlenbäumer G; Lüdemann P; Schirmacher A; De Vriendt E; Hünermund G; Young P; Hund-Georgiadis M; Schuierer G; Möller H; Ringelstein E B; Van Broeckhoven C; Timmerman V; Stögbauer F
Autosomal dominant striatal degeneration (ADSD): clinical description and mapping to 5q13-5q14.
Neurology 2004;62(12):2203-8.
2004: Evgrafov Oleg V; Mersiyanova Irena; Irobi Joy; Van Den Bosch Ludo; Dierick Ines; Leung Conrad L; Schagina Olga; Verpoorten Nathalie; Van Impe Katrien; Fedotov Valeriy; Dadali Elena; Auer-Grumbach Michaela; Windpassinger Christian; Wagner Klaus; Mitrovic Zoran; Hilton-Jones David; Talbot Kevin; Martin Jean-Jacques; Vasserman Natalia; Tverskaya Svetlana; Polyakov Alexander; Liem Ronald K H; Gettemans Jan; Robberecht Wim; De Jonghe Peter; Timmerman Vincent
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
Nature genetics 2004;36(6):602-6.
2004: Irobi Joy; Van Impe Katrien; Seeman Pavel; Jordanova Albena; Dierick Ines; Verpoorten Nathalie; Michalik Andrej; De Vriendt Els; Jacobs An; Van Gerwen Veerle; Vennekens Krist'l; Mazanec Radim; Tournev Ivailo; Hilton-Jones David; Talbot Kevin; Kremensky Ivo; Van Den Bosch Ludo; Robberecht Wim; Van Vandekerckhove Joël; Van Broeckhoven Christine; Gettemans Jan; De Jonghe Peter; Timmerman Vincent
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.
Nature genetics 2004;36(6):597-601.
2004: Chen Ying-Zhang; Bennett Craig L; Huynh Huy M; Blair Ian P; Puls Imke; Irobi Joy; Dierick Ines; Abel Annette; Kennerson Marina L; Rabin Bruce A; Nicholson Garth A; Auer-Grumbach Michaela; Wagner Klaus; De Jonghe Peter; Griffin John W; Fischbeck Kenneth H; Timmerman Vincent; Cornblath David R; Chance Phillip F
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
American journal of human genetics 2004;74(6):1128-35.
2004: Bissar-Tadmouri N; Nelis E; Züchner S; Parman Y; Deymeer F; Serdaroglu P; De Jonghe P; Van Gerwen V; Timmerman V; Schröder J M; Battaloglu E
Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene.
Neurology 2004;62(9):1522-5.
2004: Bennett Craig L; Shirk Andrew J; Huynh Huy M; Street Valerie A; Nelis Eva; Van Maldergem Lionel; De Jonghe Peter; Jordanova Albena; Guergueltcheva Velina; Tournev Ivailo; Van Den Bergh Peter; Seeman Pavel; Mazanec Radim; Prochazka Tomas; Kremensky Ivo; Haberlova Jana; Weiss Michael D; Timmerman Vincent; Bird Thomas D; Chance Phillip F
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Annals of neurology 2004;55(5):713-20.
2004: Züchner Stephan; Mersiyanova Irina V; Muglia Maria; Bissar-Tadmouri Nisrine; Rochelle Julie; Dadali Elena L; Zappia Mario; Nelis Eva; Patitucci Alessandra; Senderek Jan; Parman Yesim; Evgrafov Oleg; Jonghe Peter De; Takahashi Yuji; Tsuji Shoij; Pericak-Vance Margaret A; Quattrone Aldo; Battaloglu Esra; Polyakov Alexander V; Timmerman Vincent; Schröder J Michael; Vance Jeffery M;
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Nature genetics 2004;36(5):449-51.
2004: Hünermund Gert; Schirmacher Anja; Ringelstein Bernd; Young Peter; Watts Giles D; Meuleman Jan; Nelis Eva; Chance Phillip F; Timmerman Vincent; Stögbauer Florian; Kuhlenbäumer Gregor
Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy.
Muscle & nerve 2004;29(4):601-4.
2004: Verhoeven K; Coen K; De Vriendt E; Jacobs A; Van Gerwen V; Smouts I; Pou-Serradell A; Martin J J; Timmerman V; De Jonghe P
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.
Neurology 2004;62(6):1001-2.
2004: Nelis E; Berciano J; Verpoorten N; Coen K; Dierick I; Van Gerwen V; Combarros O; De Jonghe P; Timmerman V
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.
Journal of medical genetics 2004;41(3):193-7.
2004: Windpassinger Christian; Auer-Grumbach Michaela; Irobi Joy; Patel Heema; Petek Erwin; Hörl Gerd; Malli Roland; Reed Johanna A; Dierick Ines; Verpoorten Nathalie; Warner Thomas T; Proukakis Christos; Van den Bergh Peter; Verellen Christine; Van Maldergem Lionel; Merlini Luciano; De Jonghe Peter; Timmerman Vincent; Crosby Andrew H; Wagner Klaus
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
Nature genetics 2004;36(3):271-6.
2003: Jordanova Albena; Thomas Florian P; Guergueltcheva Velina; Tournev Ivailo; Gondim Francisco A A; Ishpekova Borjana; De Vriendt Els; Jacobs An; Litvinenko Ivan; Ivanova Neviana; Buzhov Borjan; De Jonghe Peter; Kremensky Ivo; Timmerman Vincent
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.
American journal of human genetics 2003;73(6):1423-30.
2003: Ammar Nadia; Nelis Eva; Merlini Luciano; Barisic Nina; Amouri Rim; Ceuterick Chantal; Martin Jean Jacques; Timmerman Vincent; Hentati Fayçal; De Jonghe Peter
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.
Neuromuscular disorders : NMD 2003;13(9):720-8.
2003: Lus G; Nelis E; Jordanova A; Löfgren A; Cavallaro T; Ammendola A; Melone M A B; Rizzuto N; Timmerman V; Cotrufo R; De Jonghe P
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.
Neurology 2003;61(7):988-90.
2003: Verhoeven Kristien; De Jonghe Peter; Van de Putte Tom; Nelis Eva; Zwijsen An; Verpoorten Nathalie; De Vriendt Els; Jacobs An; Van Gerwen Veerle; Francis Annick; Ceuterick Chantal; Huylebroeck Danny; Timmerman Vincent
Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.
American journal of human genetics 2003;73(4):926-32.
2003: Auer-Grumbach Michaela; De Jonghe Peter; Verhoeven Kristien; Timmerman Vincent; Wagner Klaus; Hartung Hans-Peter; Nicholson Garth A
Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review.
Archives of neurology 2003;60(3):329-34.
2003: Jordanova A; De Jonghe P; Boerkoel C F; Takashima H; De Vriendt E; Ceuterick C; Martin J-J; Butler I J; Mancias P; Papasozomenos S Ch; Terespolsky D; Potocki L; Brown C W; Shy M; Rita D A; Tournev I; Kremensky I; Lupski J R; Timmerman V
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Brain : a journal of neurology 2003;126(Pt 3):590-7.
2003: Verhoeven Kristien; De Jonghe Peter; Coen Katrien; Verpoorten Nathalie; Auer-Grumbach Michaela; Kwon Jennifer M; FitzPatrick David; Schmedding Eric; De Vriendt Els; Jacobs An; Van Gerwen Veerle; Wagner Klaus; Hartung Hans-Peter; Timmerman Vincent
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.
American journal of human genetics 2003;72(3):722-7.
2003: Demir Ercan; Irobi Joy; Erdem Sevim; Demirci Mehmet; Tan Ersin; Timmerman Vincent; De Jonghe Peter; Topaloglu Haluk
Andermann syndrome in a Turkish patient.
Journal of child neurology 2003;18(1):76-9.
2002: Nelis E; Erdem S; Van Den Bergh P Y K; Belpaire-Dethiou M-C; Ceuterick C; Van Gerwen V; Cuesta A; Pedrola L; Palau F; Gabreëls-Festen A A W M; Verellen C; Tan E; Demirci M; Van Broeckhoven C; De Jonghe P; Topaloglu H; Timmerman V
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Neurology 2002;59(12):1865-72.
2002: Nelis Eva; Erdem Sevim; Tan Ersin; Löfgren Ann; Ceuterick Chantal; De Jonghe Peter; Van Broeckhoven Christine; Timmerman Vincent; Topaloglu Haluk
A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
Neuromuscular disorders : NMD 2002;12(9):869-73.
2002: Dawkins Jennifer L; Brahmbhatt Sonal; Auer-Grumbach Michaela; Wagner Klaus; Hartung Hans-Peter; Verhoeven Kristien; Timmerman Vincent; De Jonghe Peter; Kennerson Marina; LeGuern Eric; Nicholson Garth A
Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.
Neuromuscular disorders : NMD 2002;12(7-8):656-8.
2002: van de Wetering R A C; Gabreëls-Festen A A W M; Timmerman V; Padberg G M; Gabreëls F J M; Mariman E C M
Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene.
Neuromuscular disorders : NMD 2002;12(7-8):651-5.
2002: Irobi Joy; Nelis Eva; Verhoeven Kristien; De Vriendt Els; Dierick Ines; De Jonghe Peter; Van Broeckhoven Christine; Timmerman Vincent
Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.
Journal of the peripheral nervous system : JPNS 2002;7(2):87-95.
2002: De Jonghe P; Auer-Grumbach M; Irobi J; Wagner K; Plecko B; Kennerson M; Zhu D; De Vriendt E; Van Gerwen V; Nicholson G; Hartung H-P; Timmerman V
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?
Brain : a journal of neurology 2002;125(Pt 6):1320-5.
2002: Pou Serradell A; Monells J; Téllez M J; Fossas P; Löfgren A; Meuleman J; Timmerman V; De Jonghe P; Ceuterick C; Martin J J
[Hereditary neuropathy with liability to pressure palsies: study of six Spanish families]
Revue neurologique 2002;158(5 Pt 1):579-88.
2002: Venken Koen; Di Maria Emilio; Bellone Emilia; Balestra Piercesare; Cassandrini Denise; Mandich Paola; De Jonghe Peter; Timmerman Vincent; Svaren John
Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies.
Neurogenetics 2002;4(1):37-41.
2001: Irobi J; Nelis E; Meuleman J; Venken K; De Jonghe P; Van Broeckhoven C; Timmerman V
Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.
Annals of human genetics 2001;65(Pt 6):517-29.
2001: Kuhlenbäumer G; Meuleman J; De Jonghe P; Falck B; Young P; Hünermund G; Van Broeckhoven C; Timmerman V; Stögbauer F
Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous.
Journal of neurology 2001;248(10):861-5.
2001: Verhoeven K; Villanova M; Rossi A; Malandrini A; De Jonghe P; Timmerman V
Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1.
American journal of human genetics 2001;69(4):889-94.
2001: Ismailov S M; Fedotov V P; Dadali E L; Polyakov A V; Van Broeckhoven C; Ivanov V I; De Jonghe P; Timmerman V; Evgrafov O V
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21.
European journal of human genetics : EJHG 2001;9(8):646-50.
2001: Venken K; Meuleman J; Irobi J; Ceuterick C; Martini R; De Jonghe P; Timmerman V
Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies.
Neuroreport 2001;12(11):2609-14.
2001: Meuleman J; Timmerman V; Van Broeckhoven C; De Jonghe P
Hereditary neuralgic amyotrophy.
Neurogenetics 2001;3(3):115-8.
2001: Meuleman J; Kuhlenbäumer G; Audenaert D; Hünermund G; Hor H; Young P; Stögbauer F; Ringelstein E B; Van Broeckhoven C; De Jonghe P; Timmerman V
Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA).
Human genetics 2001;108(5):390-3.
2001: Meuleman J; Pou-Serradell A; Löfgren A; Ceuterick C; Martin J J; Timmerman V; Van Broeckhoven C; De Jonghe P
A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.
Neuromuscular disorders : NMD 2001;11(4):400-3.
2001: De Jonghe P; Mersivanova I; Nelis E; Del Favero J; Martin J J; Van Broeckhoven C; Evgrafov O; Timmerman V
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
Annals of neurology 2001;49(2):245-9.
2001: Kochanski A; Lofgren A; Jedrzejowska H; Ryniewicz B; Czarny-Ratajczak M; Barciszewska A; Samocko J; Hausmanowa-Petrusewicz I; De Jonghe P; Timmerman V; Latos-Bielenska A
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
Human mutation 2001;17(2):157.
2001: Ceuterick-de Groote C; De Jonghe P; Timmerman V; Van Goethem G; Löfgren A; Ceulemans B; Van Broeckhoven C; Martin J J
Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.
Pathology, research and practice 2001;197(3):193-8.
2000: Auer-Grumbach M; De Jonghe P; Wagner K; Verhoeven K; Hartung H P; Timmerman V
Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus.
Neurology 2000;55(10):1552-7.
2000: Stögbauer F; Timmerman V; Van Broeckhoven C
71st ENMC International Workshop, 6th workshop of the European Charcot-Marie-Tooth disease consortium: hereditary recurrent focal neuropathies, 24-25 September 1999, Soestduinen, the Netherlands.
Neuromuscular disorders : NMD 2000;10(7):518-24.
2000: Kuhlenbäumer G; Stögbauer F; Timmerman V; De Jonghe P
Diagnostic guidelines for hereditary neuralgic amyotrophy or heredofamilial neuritis with brachial plexus predilection. On behalf of the European CMT Consortium.
Neuromuscular disorders : NMD 2000;10(7):515-7.
2000: Meuleman J; Timmerman V; Nelis E; De Jonghe P
Molecular genetics of inherited peripheral neuropathies: who are the actors?
Acta neurologica Belgica 2000;100(3):171-80.
2000: Young P; Stögbauer F; Eller B; de Jonghe P; Löfgren A; Timmerman V; Rautenstrauss B; Oexle K; Grehl H; Kuhlenbäumer G; Van Broeckhoven C; Ringelstein E B; Funke H
PMP22 Thr118Met is not a clinically relevant CMT1 marker.
Journal of neurology 2000;247(9):696-700.
2000: Irobi J; Tissir F; De Jonghe P; De Vriendt E; Van Broeckhoven C; Timmerman V; Beuten J
A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene.
Genomics 2000;65(1):34-43.
2000: Stögbauer F; Young P; Kuhlenbäumer G; De Jonghe P; Timmerman V
Hereditary recurrent focal neuropathies: clinical and molecular features.
Neurology 2000;54(3):546-51.
2000: Auer-Grumbach M; Wagner K; Timmerman V; De Jonghe P; Hartung H P
Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci.
Neurology 2000;54(1):45-52.
2000: Mersiyanova I V; Ismailov S M; Polyakov A V; Dadali E L; Fedotov V P; Nelis E; Löfgren A; Timmerman V; van Broeckhoven C; Evgrafov O V
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
Human mutation 2000;15(4):340-7.
1999: Kuhlenbäumer G; Schirmacher A; Meuleman J; Tissir F; Del-Favero J; Stögbauer F; Young P; Ringelstein B; Van Broeckhoven C; Timmerman V
A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes.
Genomics 1999;62(2):242-50.
1999: Meulemann J; Kuhlenbäumer G; Schirmacher A; Wehnert M; De Jonghe P; De Vriendt E; Young P; Airaksinen E; Pou-Serradell A; Prats J M; Ringelstein B; Stögbauer F; Van Broeckhoven C; Timmerman V
Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.
European journal of human genetics : EJHG 1999;7(8):920-7.
1999: De Jonghe P; Timmerman V; Nelis E; De Vriendt E; Löfgren A; Ceuterick C; Martin J J; Van Broeckhoven C
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.
Archives of neurology 1999;56(10):1283-8.
1999: Kochanski A; Timmerman V; Jedrzejowska H; Ryniewicz B; Löfgren A; De Vriendt E; Van Broeckhoven C; Latos-Bielenska A; Hausmanowa-Petrusewicz I
Mutation screening of Charcot-Marie-Tooth patients in Poland.
Annals of the New York Academy of Sciences 1999;883():493-6.
1999: Irobi J; Timmerman V; De Jonghe P; De Vriendt E; Van Broeckhoven C; Beuten J
Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24.
Annals of the New York Academy of Sciences 1999;883():463-5.
1999: Kuhlenbäumer G; Young P; Kiefer R; Timmerman V; Wang J F; Schroeder J M; Weis J; Ringelstein E B; Van Broeckhoven C; Stoegbauer F
A second family with autosomal dominant burning feet syndrome.
Annals of the New York Academy of Sciences 1999;883():445-8.
1999: Meuleman J; Kuhlenbäumer G; Schirmacher A; Wehnert M; Young P; Stögbauer F; Ringelstein E B; Van Broeckhoven C; Timmerman V
Hereditary neuralgic amyotrophy: mutation analysis of candidate genes.
Annals of the New York Academy of Sciences 1999;883():443-4.
1999: De Jonghe P; Nelis E; Timmerman V; Löfgren A; Martin J J; Van Broeckhoven C
Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results.
Annals of the New York Academy of Sciences 1999;883():389-96.
1999: Timmerman V; Beuten J; Irobi J; De Jonghe P; Martin J J; Van Broeckhoven C
Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics.
Annals of the New York Academy of Sciences 1999;883():60-4.
1999: Nelis E; Timmerman V; De Jonghe P; Van Broeckhoven C; Rautenstrauss B
Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field.
Neurogenetics 1999;2(3):137-48.
1999: Stögbauer F; Young P; Kuhlenbäumer G; Kiefer R; Timmerman V; Ringelstein E B; Wang J F; Schröder J M; Van Broeckhoven C; Weis J
Autosomal dominant burning feet syndrome.
Journal of neurology, neurosurgery, and psychiatry 1999;67(1):78-81.
1999: Timmerman V; De Jonghe P; Ceuterick C; De Vriendt E; Löfgren A; Nelis E; Warner L E; Lupski J R; Martin J J; Van Broeckhoven C
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
Neurology 1999;52(9):1827-32.
1999: De Jonghe P; Timmerman V; Ceuterick C; Nelis E; De Vriendt E; Löfgren A; Vercruyssen A; Verellen C; Van Maldergem L; Martin J J; Van Broeckhoven C
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.
Brain : a journal of neurology 1999;122 ( Pt 2)():281-90.
1999: Timmerman V; De Jonghe P; Van Broeckhoven C
Report of the 8th annual symposium of the European Charcot-Marie-Tooth Consortium, Antwerpen, Belgium, July 2-4, 1999.
Journal of the peripheral nervous system : JPNS 1999;4(3-4):279-304.
1998: Kuhlenbaeumer G; Meuleman J; Schirmacher A; Stoegbauer F; Ringelstein E B; Wehnert M; Hoeltzenbein M; Broeckhoven C V; Timmerman V
Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicing factor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA).
Annals of human genetics 1998;62(Pt 5):397-400.
1998: Young P; Stögbauer F; Wiebusch H; Löfgren A; Timmerman V; Van Broeckhoven C; Ringelstein E B; Assmann G; Funke H
PCR-based strategy for the diagnosis of hereditary neuropathy with liability to pressure palsies and Charcot-Marie-Tooth disease type 1A.
Neurology 1998;50(3):760-3.
1998: Stögbauer F; Young P; Kuhlenbäumer G; Meuleman J; Timmerman V; van Broeckhoven C; Kurlemann G; Ringelstein E B
[Hereditary neural amyotrophy (HNA): clinical and molecular genetic basis]
Fortschritte der Neurologie-Psychiatrie 1998;66(1):10-4.
1998: Stögbauer F; Young P; Wiebusch H; Timmerman V; Kuhlenbäumer G; Nelis E; Ringelstein E B; Kurlemann G; Assmann G; Van Broeckhoven C; Funke H
Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome.
Neuroscience letters 1998;240(1):1-4.
1997: De Jonghe P; Timmerman V; FitzPatrick D; Spoelders P; Martin J J; Van Broeckhoven C
Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.
Journal of neurology, neurosurgery, and psychiatry 1997;62(6):570-3.
1997: Wehnert M; Timmerman V; Spoelders P; Meuleman J; Nelis E; Van Broeckhoven C
Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q.
Neurology 1997;48(6):1719-21.
1997: Stögbauer F; Young P; Timmerman V; Spoelders P; Ringelstein E B; Van Broeckhoven C; Kurlemann G
Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25.
Human genetics 1997;99(5):685-7.
1997: Beuten J; De Vriendt E; De Jonghe P; Martin J J; Van Broeckhoven C; Timmerman V
Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24.
Neuroscience letters 1997;223(1):69-71.
1997: Timmerman V; Rautenstrauss B; Reiter L T; Koeuth T; Löfgren A; Liehr T; Nelis E; Bathke K D; De Jonghe P; Grehl H; Martin J J; Lupski J R; Van Broeckhoven C
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
Journal of medical genetics 1997;34(1):43-9.
1997: De Jonghe P; Timmerman V; Nelis E; Martin J J; Van Broeckhoven C
Charcot-Marie-Tooth disease and related peripheral neuropathies.
Journal of the peripheral nervous system : JPNS 1997;2(4):370-87.
1997: Müller H W; Suter U; Van Broeckhoven C; Hanemann C O; Nelis E; Timmerman V; Sancho S; Barrio L; Bolhuis P; Dermietzel R; Frank M; Gabreëls-Festen A; Gillen C; Haites N; Levi G; Mariman E; Martini R; Nave K; Rautenstrauss B; Schachner M; Schenone A; Schneider C; Schröder M; Willecke K;
Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. The European CMT Consortium.
Neurobiology of disease 1997;4(3-4):215-20.
1997: Nelis E; Simokovic S; Timmerman V; Löfgren A; Backhovens H; De Jonghe P; Martin J J; Van Broeckhoven C
Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.
Human mutation 1997;9(1):47-52.
1996: Timmerman V; De Jonghe P; Simokovic S; Löfgren A; Beuten J; Nelis E; Ceuterick C; Martin J J; Van Broeckhoven C
Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.
Human molecular genetics 1996;5(7):1065-9.
1996: Timmerman V; De Jonghe P; Spoelders P; Simokovic S; Löfgren A; Nelis E; Vance J; Martin J J; Van Broeckhoven C
Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
Neurology 1996;46(5):1311-8.
1996: Timmerman V; Löfgren A; Le Guern E; Liang P; De Jonghe P; Martin J J; Verhalle D; Robberecht W; Gouider R; Brice A; Van Broeckhoven C
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP).
Human genetics 1996;97(1):26-34.
1996: Silander K; Meretoja P; Nelis E; Timmerman V; Van Broeckhoven C; Aula P; Savontaus M L
A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine-Sottas syndrome patients.
Human mutation 1996;8(4):304-10.
1995: Navon R; Timmerman V; Löfgren A; Liang P; Nelis E; Zeitune M; Van Broeckhoven C
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques.
Prenatal diagnosis 1995;15(7):633-40.
1994: Nelis E; Timmerman V; De Jonghe P; Vandenberghe A; Pham-Dinh D; Dautigny A; Martin J J; Van Broeckhoven C
Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.
Human genetics 1994;94(6):653-7.
1994: Nelis E; Timmerman V; De Jonghe P; Muylle L; Martin J J; Van Broeckhoven C
Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.
Journal of medical genetics 1994;31(10):811-5.
1994: Matise T C; Chakravarti A; Patel P I; Lupski J R; Nelis E; Timmerman V; Van Broeckhoven C; Weeks D E
Detection of tandem duplications and implications for linkage analysis.
American journal of human genetics 1994;54(6):1110-21.
1994: Nelis E; Timmerman V; De Jonghe P; Van Broeckhoven C
Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.
Human molecular genetics 1994;3(3):515-6.
1992: Timmerman V; Nelis E; Van Hul W; Nieuwenhuijsen B W; Chen K L; Wang S; Ben Othman K; Cullen B; Leach R J; Hanemann C O
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.
Nature genetics 1992;1(3):171-5.
1992: Timmerman V; Raeymaekers P; Nelis E; De Jonghe P; Muylle L; Ceuterick C; Martin J J; Van Broeckhoven C
Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree.
Journal of the neurological sciences 1992;109(1):41-8.
1992: Raeymaekers P; Timmerman V; Nelis E; Van Hul W; De Jonghe P; Martin J J; Van Broeckhoven C
Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.
Journal of medical genetics 1992;29(1):5-11.
1991: Raeymaekers P; Timmerman V; Nelis E; De Jonghe P; Hoogendijk J E; Baas F; Barker D F; Martin J J; De Visser M; Bolhuis P A
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.
Neuromuscular disorders : NMD 1991;1(2):93-7.
1990: Timmerman V; Raeymaekers P; De Jonghe P; De Winter G; Swerts L; Jacobs K; Gheuens J; Martin J J; Vandenberghe A; Van Broeckhoven C
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.
American journal of human genetics 1990;47(4):680-5.
1989: Raeymaekers P; Timmerman V; De Jonghe P; Swerts L; Gheuens J; Martin J J; Muylle L; De Winter G; Vandenberghe A; Van Broeckhoven C
Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).
American journal of human genetics 1989;45(6):953-8.

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