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Eva Nelis

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Kristl G Claeys; Stephan Zuchner; Marina Kennerson; José Berciano; Antonio Garcia; Kristien Verhoeven; Elsdon Storey; John R Merory; Henriette M E Bienfait; Martin Lammens; Eva Nelis; Jonathan Baets; Els De Vriendt; Zwi N Berneman; Ilse De Veuster; Jeffery Vance; Garth Nicholson; Vincent Timmerman; Peter De Jonghe
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Jonathan Baets; Ines Dierick; Chantal Ceuterick-de Groote; Jenneke van den Ende; Jean-Jacques Martin; Karin Geens; Wim Robberecht; Eva Nelis; Vincent Timmerman; Peter De Jonghe
Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.
Ines Dierick; Jonathan Baets; Joy Irobi; An Jacobs; Els De Vriendt; Tine Deconinck; Luciano Merlini; P Y K Van Den Bergh; Vedrana Milic Rasic; Wim Robberecht; Dirk Fischer; Raul Juntas Morales; Zoran Mitrovic; Pavel Seeman; Radim Mazanec; Andrzej Kochanski; Albena Jordanova; Michaela Auer-Grumbach; A T J M Helderman-van den Enden; John H J Wokke; Eva Nelis; Peter De Jonghe; Vincent Timmerman
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

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All Publications

2009: Kristl G Claeys; Stephan Zuchner; Marina Kennerson; José Berciano; Antonio Garcia; Kristien Verhoeven; Elsdon Storey; John R Merory; Henriette M E Bienfait; Martin Lammens; Eva Nelis; Jonathan Baets; Els De Vriendt; Zwi N Berneman; Ilse De Veuster; Jeffery Vance; Garth Nicholson; Vincent Timmerman; Peter De Jonghe
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Brain : a journal of neurology 2009;132(Pt 7):1741-52.
2009: Jonathan Baets; Ines Dierick; Chantal Ceuterick-de Groote; Jenneke van den Ende; Jean-Jacques Martin; Karin Geens; Wim Robberecht; Eva Nelis; Vincent Timmerman; Peter De Jonghe
Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.
Neuromuscular disorders : NMD 2009;19(2):172-5.
2008: Ines Dierick; Jonathan Baets; Joy Irobi; An Jacobs; Els De Vriendt; Tine Deconinck; Luciano Merlini; P Y K Van Den Bergh; Vedrana Milic Rasic; Wim Robberecht; Dirk Fischer; Raul Juntas Morales; Zoran Mitrovic; Pavel Seeman; Radim Mazanec; Andrzej Kochanski; Albena Jordanova; Michaela Auer-Grumbach; A T J M Helderman-van den Enden; John H J Wokke; Eva Nelis; Peter De Jonghe; Vincent Timmerman
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.
2007: Olga Koop; Anja Schirmacher; Eva Nelis; Vincent Timmerman; Peter De Jonghe; Bernd Ringelstein; Vedrana Milic Rasic; Philippe Evrard; Jutta Gärtner; Kristl G Claeys; Silke Appenzeller; Bernd Rautenstrauss; Kathrin Hühne; Maria A Ramos-Arroyo; Helmut Wörle; Jukka S Moilanen; Simon Hammans; Gregor Kuhlenbäumer
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Neuromuscular disorders : NMD 2007;17(8):624-30.
2007: Lucia Baránková; Emilie Vyhnálková; Stephan Zuchner; Radim Mazanec; Iva Sakmaryová; Petr Vondrácek; Luciano Merlini; Martin Bojar; Eva Nelis; Peter De Jonghe; Pavel Seeman
GDAP1 mutations in Czech families with early-onset CMT.
Neuromuscular disorders : NMD 2007;17(6):482-9.
2007: Neviana Ivanova; Kristl G Claeys; Tine Deconinck; Ivan Litvinenko; Albena Jordanova; Michaela Auer-Grumbach; Jana Haberlova; Ann Löfgren; Gisele Smeyers; Eva Nelis; Rudy Mercelis; Barbara Plecko; Josef Priller; Josef Zámecník; Berten Ceulemans; Anne Kjersti Erichsen; Erik Björck; Garth Nicholson; Michael W Sereda; Pavel Seeman; Ivo Kremensky; Vanio Mitev; Peter De Jonghe
Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Archives of neurology 2007;64(5):706-13.
2006: Katrien Coen; Davide Pareyson; Michaela Auer-Grumbach; Gunnar Buyse; Nathalie Goemans; Kristl G Claeys; Nathalie Verpoorten; Matilde Laurà; Vidmer Scaioli; W Salmhofer; Thomas R Pieber; Eva Nelis; Peter De Jonghe; Vincent Timmerman
Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
Neurology 2006;66(5):748-51.
2006: Kinga Szigeti; Eva Nelis; James R Lupski
Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.
Neuromolecular medicine 2006;8(1-2):243-54.
2006: Nathalie Verpoorten; Kristl G Claeys; Liesbet Deprez; An Jacobs; Veerle Van Gerwen; Lieven Lagae; W F M Arts; Linda De Meirleir; Kathelijn Keymolen; Chantal Ceuterick-de Groote; Peter De Jonghe; Vincent Timmerman; Eva Nelis
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.
2005: Gregor Kuhlenbäumer; Mark C Hannibal; Eva Nelis; Anja Schirmacher; Nathalie Verpoorten; Jan Meuleman; Giles D J Watts; Els De Vriendt; Peter Young; Florian Stögbauer; Hartmut Halfter; Joy Irobi; Dirk Goossens; Jurgen Del-Favero; Benjamin G Betz; Hyun Hor; Gerhard Kurlemann; Thomas D Bird; Eila Airaksinen; Tarja Mononen; Adolfo Pou Serradell; José M Prats; Christine Van Broeckhoven; Peter De Jonghe; Vincent Timmerman; E Bernd Ringelstein; Phillip F Chance
Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Nature genetics 2005;37(10):1044-6.
2004: Yesim Parman; Esra Battaloglu; Ibrahim Baris; Birdal Bilir; Mürüvvet Poyraz; Nisrine Bissar-Tadmouri; Anna Williams; Nadia Ammar; Eva Nelis; Vincent Timmerman; Peter De Jonghe; Ayaz Najafov; Ayaz Necefov; Feza Deymeer; Piraye Serdaroglu; Peter J Brophy; Gérard Said
Clinicopathological and genetic study of early-onset demyelinating neuropathy.
Brain : a journal of neurology 2004;127(Pt 11):2540-50.
2004: Nisrine Bissar-Tadmouri; Eva Nelis; Stephan Zuchner; Yesim Parman; Feza Deymeer; Piraye Serdaroglu; Peter De Jonghe; Veerle Van Gerwen; Vincent Timmerman; J Michael Schröder; Esra Battaloglu
Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene.
Neurology 2004;62(9):1522-5.
2004: Craig L Bennett; Andrew J Shirk; Huy M Huynh; Valerie A Street; Eva Nelis; Lionel Van Maldergem; Peter De Jonghe; Albena Jordanova; Velina Guergueltcheva; Ivailo Tournev; P Y K Van Den Bergh; Pavel Seeman; Radim Mazanec; Tomas Prochazka; Ivo Kremensky; Jana Haberlova; Michael D Weiss; Vincent Timmerman; Thomas D Bird; Phillip F Chance
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Annals of neurology 2004;55(5):713-20.
2004: Stephan Zuchner; Irina V Mersiyanova; Maria Muglia; Nisrine Bissar-Tadmouri; Julie M Rochelle; Elena L Dadali; Mario Zappia; Eva Nelis; Alessandra Patitucci; Jan Senderek; Yesim Parman; Oleg V Evgrafov; Peter De Jonghe; Yuji Takahashi; Shoij Tsuji; Margaret Pericak-Vance; Aldo Quattrone; Esra Battaloglu; Alexander V Polyakov; Vincent Timmerman; J Michael Schröder; Jeffery Vance; Esra Battologlu
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Nature genetics 2004;36(5):449-51.
2004: Gert Hünermund; Anja Schirmacher; Bernd Ringelstein; Peter Young; Giles D J Watts; Jan Meuleman; Eva Nelis; Phillip F Chance; Vincent Timmerman; Florian Stögbauer; Gregor Kuhlenbäumer
Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy.
Muscle & nerve 2004;29(4):601-4.
2004: Eva Nelis; J Berciano; Nathalie Verpoorten; Katrien Coen; Ines Dierick; Veerle Van Gerwen; O Combarros; Peter De Jonghe; Vincent Timmerman
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.
2003: Nadia Ammar; Eva Nelis; Luciano Merlini; Nina Barisić; Rim Amouri; Chantal Ceuterick; Jean-Jacques Martin; Vincent Timmerman; Faycal Hentati; Peter De Jonghe
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.
Neuromuscular disorders : NMD 2003;13(9):720-8.
2003: Giacomo Lus; Eva Nelis; Albena Jordanova; Ann Löfgren; T Cavallaro; Angelo Ammendola; Mariarosa AD Melone; N Rizzuto; Vincent Timmerman; Roberto Cotrufo; Peter De Jonghe
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.
Neurology 2003;61(7):988-90.
2003: Kristien Verhoeven; Peter De Jonghe; Tom Van de Putte; Eva Nelis; An Zwijsen; Nathalie Verpoorten; Els De Vriendt; An Jacobs; Veerle Van Gerwen; Annick Francis; Chantal Ceuterick; Danny Huylebroeck; Vincent Timmerman
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: Jan Senderek; Carsten Bergmann; Vincent T Ramaekers; Eva Nelis; Günther Bernert; Astrid Makowski; Stephan Zuchner; Peter De Jonghe; Sabine Rudnik-Schöneborn; Klaus Zerres; J Michael Schröder
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.
Brain : a journal of neurology 2003;126(Pt 3):642-9.
2002: Eva Nelis; S Erdem; P Y K Van Den Bergh; M-C Belpaire-Dethiou; Chantal Ceuterick; Veerle Van Gerwen; Ana Cuesta; Laia Pedrola; Francesc Palau; A A W M Gabreëls-Festen; Christine Verellen; E Tan; Mehmet Demirci; Christine Van Broeckhoven; Peter De Jonghe; H Topaloglu; Vincent Timmerman
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy.
Neurology 2002;59(12):1865-72.
2002: Arif B Ekici; Sevinc Oezbey; Christina Fuchs; Eva Nelis; Christine Van Broeckhoven; Melitta Schachner; Bernd Rautenstrauss
Tracing myelin protein zero (P0) in vivo by construction of P0-GFP fusion proteins.
BMC cell biology 2002;3():29.
2002: Eva Nelis; Sevim Erdem; Ersin Tan; Ann Löfgren; Chantal Ceuterick; Peter De Jonghe; Christine Van Broeckhoven; Vincent Timmerman; Haluk Topaloglu
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: Joy Irobi; Eva Nelis; Kristien Verhoeven; Els De Vriendt; Ines Dierick; Peter De Jonghe; Christine Van Broeckhoven; Vincent Timmerman
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.
2001: Joy Irobi; Eva Nelis; Jan Meuleman; Katrien Venken; Peter De Jonghe; Christine Van Broeckhoven; Vincent Timmerman
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: Peter De Jonghe; I Mersivanova; Eva Nelis; Jurgen Del-Favero; Jean-Jacques Martin; Christine Van Broeckhoven; Oleg V Evgrafov; Vincent Timmerman
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
Annals of neurology 2001;49(2):245-9.
2000: Jan Meuleman; Vincent Timmerman; Eva Nelis; Peter De Jonghe
Molecular genetics of inherited peripheral neuropathies: who are the actors?
Acta neurologica Belgica 2000;100(3):171-80.
2000: Irina V Mersiyanova; S M Ismailov; Alexander V Polyakov; Elena L Dadali; Valeriy Fedotov; Eva Nelis; Ann Löfgren; Vincent Timmerman; Christine Van Broeckhoven; Oleg V Evgrafov
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: Peter De Jonghe; Vincent Timmerman; Eva Nelis; Els De Vriendt; Ann Löfgren; Chantal Ceuterick; Jean-Jacques Martin; Christine Van Broeckhoven
A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.
Archives of neurology 1999;56(10):1283-8.
1999: Peter De Jonghe; Eva Nelis; Vincent Timmerman; Ann Löfgren; Jean-Jacques Martin; Christine Van Broeckhoven
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: Eva Nelis; Vincent Timmerman; Peter De Jonghe; Christine Van Broeckhoven; Bernd Rautenstrauss
Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field.
Neurogenetics 1999;2(3):137-48.
1999: Vincent Timmerman; Peter De Jonghe; Chantal Ceuterick; Els De Vriendt; Ann Löfgren; Eva Nelis; L E Warner; James R Lupski; Jean-Jacques Martin; Christine Van Broeckhoven
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
Neurology 1999;52(9):1827-32.
1999: Peter De Jonghe; Vincent Timmerman; Chantal Ceuterick; Eva Nelis; Els De Vriendt; Ann Löfgren; A Vercruyssen; Christine Verellen; Lionel Van Maldergem; Jean-Jacques Martin; Christine Van Broeckhoven
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: Eva Nelis; N Haites; Christine Van Broeckhoven
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.
Human mutation 1999;13(1):11-28.
1998: Arif B Ekici; Christina Fuchs; Eva Nelis; R Hillenbrand; Melitta Schachner; Christine Van Broeckhoven; Bernd Rautenstrauss
An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins.
Genetic analysis : biomolecular engineering 1998;14(4):117-9.
1998: Eva Nelis; Peter De Jonghe; Els De Vriendt; P I Patel; Jean-Jacques Martin; Christine Van Broeckhoven
Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.
Journal of medical genetics 1998;35(7):590-3.
1998: Lawrence Reiter; Philip J Hastings; Eva Nelis; Peter De Jonghe; Christine Van Broeckhoven; James R Lupski
Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.
American journal of human genetics 1998;62(5):1023-33.
1998: Florian Stögbauer; Peter Young; Heiko Wiebusch; Vincent Timmerman; Gregor Kuhlenbäumer; Eva Nelis; E Bernd Ringelstein; Gerhard Kurlemann; Gerd Assmann; Christine Van Broeckhoven; Harald Funke
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.
1998: Bernd Rautenstrauss; Christina Fuchs; Arif B Ekici; Eva Nelis; Christine Van Broeckhoven; Thomas Liehr
Assay of transfection rate in insect cells on a single cell level.
Genetic analysis : biomolecular engineering 1998;14(3):103-4.
1997: Manfred Wehnert; Vincent Timmerman; P Spoelders; Jan Meuleman; Eva Nelis; Christine Van Broeckhoven
Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q.
Neurology 1997;48(6):1719-21.
1997: S Bort; Eva Nelis; V Timmerman; Teresa Sevilla; Antonio Cruz-Martínez; Francisco Martínez; José M Millán; Javier Arpa; Juan J Vílchez; Félix Prieto; Christine Van Broeckhoven; Francesc Palau
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
Human genetics 1997;99(6):746-54.
1997: Peter De Jonghe; Vincent Timmerman; Eva Nelis; Jean-Jacques Martin; Christine Van Broeckhoven
Charcot-Marie-Tooth disease and related peripheral neuropathies.
Journal of the peripheral nervous system : JPNS 1997;2(4):370-87.
1997: Hans Werner Müller; U Suter; Christine Van Broeckhoven; C Oliver Hanemann; Eva Nelis; Vincent Timmerman; S Sancho; L Barrio; P Bolhuis; R Dermietzel; M Frank; A A W M Gabreëls-Festen; C Gillen; N Haites; G Levi; Edwin C M Mariman; R Martini; K Nave; Bernd Rautenstrauss; M Schachner; A Schenone; C Schneider; M Schröder; Klaus Willecke; O Haneman
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: Vincent Timmerman; Bernd Rautenstrauss; Lawrence Reiter; T Koeuth; Ann Löfgren; Thomas Liehr; Eva Nelis; KD Bathke; Peter De Jonghe; H Grehl; Jean-Jacques Martin; James R Lupski; Christine Van Broeckhoven
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.
Journal of medical genetics 1997;34(1):43-9.
1997: Eva Nelis; S Simokovic; Vincent Timmerman; Ann Löfgren; Hubert Backhovens; Peter De Jonghe; Jean-Jacques Martin; Christine Van Broeckhoven
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: LE Warner; M J Hilz; S H Appel; J M Killian; E H Kolodry; G Karpati; S Carpenter; G V Watters; C Wheeler; D Witt; A Bodell; Eva Nelis; Christine Van Broeckhoven; James R Lupski
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.
Neuron 1996;17(3):451-60.
1996: A A W M Gabreëls-Festen; Jessica E Hoogendijk; P H Meijerink; Fons J M Gabreëls; PA Bolhuis; Sylvia van Beersum; T Kulkens; Eva Nelis; F G I Jennekens; Marianne De Visser; B G M van Engelen; Christine Van Broeckhoven; Edwin C M Mariman
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.
Neurology 1996;47(3):761-5.
1996: Vincent Timmerman; Peter De Jonghe; S Simokovic; Ann Löfgren; J Beuten; Eva Nelis; Chantal Ceuterick; Jean-Jacques Martin; Christine Van Broeckhoven
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: Vincent Timmerman; Peter De Jonghe; P Spoelders; S Simokovic; Ann Löfgren; Eva Nelis; Jeffery Vance; Jean-Jacques Martin; Christine Van Broeckhoven
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: Eva Nelis; L E Warner; E D Vriendt; Phillip F Chance; James R Lupski; Christine Van Broeckhoven
Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies.
European journal of human genetics : EJHG 1996;4(6):329-33.
1996: K Silander; P Meretoja; Eva Nelis; Vincent Timmerman; Christine Van Broeckhoven; Pertti Aula; Marja-Liisa Savontaus
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.
1996: Eva Nelis; Christine Van Broeckhoven; Peter De Jonghe; Ann Löfgren; Antoon Vandenberghe; Philippe Latour; E Le Guern; Alexis Brice; Maria Luisa Mostacciuolo; Franco Schiavon; Francesc Palau; S Bort; M Upadhyaya; M Rocchi; N Archidiacono; Paola Mandich; Emilia Bellone; K Silander; Marja-Liisa Savontaus; Ruth Navon; H Goldberg-Stern; X Estivill; V Volpini; W Friedl; A Gal
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
European journal of human genetics : EJHG 1996;4(1):25-33.
1996: Emilia Bellone; Paola Mandich; R James; Eva Nelis; L D Lamba; Christine Van Broeckhoven; Franco Ajmar
Identification of a 4 bp deletion (1560del4) in po gene in a family with severe Charcot-Marie-Tooth disease.
Human mutation 1996;7(4):377-8.
1995: R James; Emilia Bellone; Eva Nelis; Paola Mandich; Angelo Schenone; G Mancardi; Christine Van Broeckhoven; Michele Abbruzzese; Franco Ajmar
Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding.
Neuroscience letters 1995;194(1-2):136-8.
1995: Ruth Navon; Vincent Timmerman; Ann Löfgren; P Liang; Eva Nelis; M Zeitune; Christine Van Broeckhoven
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A) using molecular genetic techniques.
Prenatal diagnosis 1995;15(7):633-40.
1995: Philippe Latour; F Blanquet; Eva Nelis; C Bonnebouche; Françoise Chapon; P Diraison; Elisabeth Ollagnon; André Dautigny; Danielle Pham-Dinh; G Chazot
Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
Human mutation 1995;6(1):50-4.
1994: Eva Nelis; Vincent Timmerman; Peter De Jonghe; Antoon Vandenberghe; Danielle Pham-Dinh; André Dautigny; Jean-Jacques Martin; Christine Van Broeckhoven
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: Eva Nelis; Vincent Timmerman; Peter De Jonghe; L Muylle; Jean-Jacques Martin; Christine Van Broeckhoven
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: Bernd Rautenstrauss; Eva Nelis; H Grehl; R A Pfeiffer; Christine Van Broeckhoven
Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.
Human molecular genetics 1994;3(9):1701-2.
1994: D Verhalle; Ann Löfgren; Eva Nelis; I Dehaene; P Theys; M Lammens; R Dom; Christine Van Broeckhoven; Wim Robberecht
Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies.
Annals of neurology 1994;35(6):704-8.
1994: T C Matise; Aravinda Chakravarti; Pragna I Patel; James R Lupski; Eva Nelis; Vincent Timmerman; Christine Van Broeckhoven; Daniel E Weeks
Detection of tandem duplications and implications for linkage analysis.
American journal of human genetics 1994;54(6):1110-21.
1994: Eva Nelis; Vincent Timmerman; Peter De Jonghe; Christine Van Broeckhoven
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.
1993: Francesc Palau; Ann Löfgren; Peter De Jonghe; S Bort; Eva Nelis; Teresa Sevilla; J J Martin; J Vilchez; Félix Prieto; Christine Van Broeckhoven
Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.
Human molecular genetics 1993;2(12):2031-5.
1992: Vincent Timmerman; Eva Nelis; Wim Van Hul; B W Nieuwenhuijsen; KL Chen; S Wang; K Ben Othman; B Cullen; Robin J Leach; C Oliver Hanemann
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: Vincent Timmerman; Petra Raeymaekers; Eva Nelis; Peter De Jonghe; L Muylle; Chantal Ceuterick; Jean-Jacques Martin; Christine Van Broeckhoven
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: Petra Raeymaekers; Vincent Timmerman; Eva Nelis; Wim Van Hul; Peter De Jonghe; Jean-Jacques Martin; Christine Van Broeckhoven
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: Petra Raeymaekers; Vincent Timmerman; Eva Nelis; Peter De Jonghe; Jessica E Hoogendijk; F Baas; David Barker; Jean-Jacques Martin; Marianne De Visser; PA Bolhuis
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.