E. Nelis

发表

An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins.

C. van Broeckhoven, A. Ekici, M. Schachner, 1998, Genetic analysis : biomolecular engineering.

Tracing Myelin Protein Zero (P0) in vivo by construction of P0-GFP fusion proteins

C. van Broeckhoven, A. Ekici, M. Schachner, 2002, BMC Cell Biology.

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.

W. Robberecht, A. Kochański, V. Timmerman, 2007, Brain : a journal of neurology.

Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.

C. van Broeckhoven, J. Martín, E. Nelis, 1993, Human molecular genetics.

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.

S. Züchner, E. Storey, K. Claeys, 2009, Brain : a journal of neurology.

Hereditary spastic paraplegia 3A associated with axonal neuropathy.

K. Claeys, B. Ceulemans, M. Sereda, 2007, Archives of neurology.

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

J. Lupski, S. Züchner, J. Vance, 2006, Brain : a journal of neurology.

Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

J. Meuleman, K. Venken, V. Timmerman, 2001 .

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

J. Lupski, C. van Broeckhoven, J. Martín, 1997, Journal of medical genetics.

Further evidence that neurofilament light chain gene mutations can cause Charcot‐Marie‐Tooth disease type 2E

C. van Broeckhoven, O. Evgrafov, V. Timmerman, 2001, Annals of neurology.

Screening for Mutations in the Peripheral Myelin Genes PMP 22 , MPZ and Cx 32 ( GJB 1 ) in Russian Charcot-Marie-Tooth Neuropathy Patients

C. Broeckhoven, C. van Broeckhoven, O. Evgrafov, 2022 .

Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsy (HNPP)

V. Timmerman, E. Nelis, P. Jonghe, 2005 .

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths

C. Broeckhoven, V. Timmerman, E. Nelis, 2002, Neuromuscular Disorders.

Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies

J. Lupski, K. Szigeti, E. Nelis, 2007, NeuroMolecular Medicine.

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

C. Broeckhoven, J. Millán, F. Martínez, 1997, Human Genetics.

Mutations in the myelin protein zero gene associated with Charcot‐Marie‐Tooth disease type 1B

C. van Broeckhoven, D. Pham‐Dinh, G. Chazot, 1995, Human mutation.

Deletion in the CMT1A locus on chromosome 17p11.2 in hereditary neuropathy with liability to pressure palsies

C. van Broeckhoven, W. Robberecht, R. Dom, 1994, Annals of neurology.

Hereditary Peripheral Neuropathies

V. Timmerman, E. Nelis, P. Jonghe, 2000 .

Molecular Diagnostic Testing in Charcot‐Marie‐Tooth Disease and Related Disorders: Approaches and Results

C. van Broeckhoven, V. Timmerman, E. Nelis, 1999, Annals of the New York Academy of Sciences.

Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II

K. Claeys, T. Pieber, V. Scaioli, 2006, Neurology.

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

C. van Broeckhoven, J. Martín, J. Beuten, 1996, Human molecular genetics.

Mutation analysis of the connexin 32 (Cx32) gene in charcot‐marie‐tooth neuropathy type 1: Identification of five new mutations

C. van Broeckhoven, H. Backhovens, J. Martin, 1997, Human mutation.

3rd Workshop of the European CMT consortium: 54th ENMC International Workshop on Genotype/Phenotype Correlations in Charcot-Marie-Tooth Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies28–30 November 1997, Naarden, The Netherlands

C. Broeckhoven, N. Haites, E. Nelis, 1998, Neuromuscular Disorders.

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV

Lieven Lagae, Kristl G. Claeys, Liesbet Deprez, 2006, Neuromuscular Disorders.

Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2.

C. van Broeckhoven, G. Holmgren, E. Nelis, 1994, Journal of medical genetics.

A de novo duplication in 17p11.2 and a novel mutation in the Po gene in two Déjérine—Sottas syndrome patients

C. Broeckhoven, K. Silander, M. Savontaus, 1996, Human mutation.

Prenatal diagnosis of charcot‐marie‐tooth disease type 1a (CMT1A) using molecular genetic techniques

C. Broeckhoven, C. van Broeckhoven, V. Timmerman, 1995, Prenatal diagnosis.

Identification of a 5' splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1.

C. van Broeckhoven, V. Timmerman, E. Nelis, 1994, Human molecular genetics.

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease

C. van Broeckhoven, J. Martín, H. Houlden, 2006 .

Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype

J. Lupski, C. van Broeckhoven, V. Timmerman, 1999, Neurology.

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

C. van Broeckhoven, J. Martín, V. Timmerman, 1999, Brain : a journal of neurology.

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease

Luciano Merlini, V. Timmerman, E. Nelis, 2003, Neuromuscular Disorders.

GDAP1 mutations in Czech families with early-onset CMT

S. Züchner, P. Vondracek, E. Nelis, 2007, Neuromuscular Disorders.

Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.

S. Züchner, K. Zerres, S. Rudnik-Schöneborn, 2003, Brain : a journal of neurology.

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

P. Patel, C. van Broeckhoven, J. Martín, 1998, Journal of medical genetics.

Peripheral neuropathy and 46XY gonadal dysgenesis: A heterogeneous entity

W. Robberecht, V. Timmerman, E. Nelis, 2009, Neuromuscular Disorders.

Molecular genetics of inherited peripheral neuropathies: who are the actors?

J. Meuleman, V. Timmerman, E. Nelis, 2000, Acta neurologica Belgica.

Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene

C. Broeckhoven, D. Pham‐Dinh, V. Timmerman, 1994, Human Genetics.

Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome

C. Broeckhoven, G. Assmann, H. Wiebusch, 1998, Neuroscience Letters.

Comparison of Single-Strand Conformation Polymorphism and Heteroduplex Analysis for Detection of Mutations in Charcot-Marie-Tooth Type 1 Disease and Related Peripheral Neuropathies

J. Lupski, C. Broeckhoven, P. Chance, 1996, European journal of human genetics : EJHG.

Molecular analysis of three cases with hereditary motor and sensory neuropathy with myelin outfolding

C. Broeckhoven, E. Bellone, A. Schenone, 1995, Neuroscience Letters.

Mutations in the ganglioside-induced differentiation-associated protein-1 ( GDAP 1 ) gene in intermediate type autosomal recessive Charcot

K. Zerres, V. Ramaekers, C. Bergmann, 2022 .

Mutations in GDAP1

C. van Broeckhoven, F. Palau, V. Timmerman, 2002, Neurology.

Homozygosity mapping of families with recessive Charcot-Marie-Tooth neuropathies

V. Timmerman, M. Villanova, E. Nelis, 2001 .

Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR–based GS‐FLX sequencing

P. D. Rijk, L. Moens, E. Nelis, 2009, Human mutation.

Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy

C. van Broeckhoven, F. Palau, V. Timmerman, 2002 .

Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

M. Pericak-Vance, S. Züchner, J. Vance, 2004, Nature Genetics.

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

M. Pericak-Vance, S. Züchner, J. Vance, 2004, Nature Genetics.

Mutation scanning the GJB1 gene with high-resolution melting analysis: implications for mutation scanning of genes for Charcot-Marie-Tooth disease.

V. Timmerman, E. Nelis, G. Nicholson, 2007, Clinical chemistry.

Charcot–Marie–Tooth disease with giant axons

V. Timmerman, E. Nelis, P. de Jonghe, 2003, Neurology.

Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3.

C. van Broeckhoven, J. Meuleman, K. Venken, 2001, Annals of human genetics.

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

T. Bird, P. Chance, V. Timmerman, 2004, Annals of neurology.

Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation

O. Combarros, K. Claeys, E. Gallardo, 2008, Journal of Neurology.

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

C. van Broeckhoven, O. Evgrafov, V. Timmerman, 2000, Human mutation.

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

E. Ringelstein, J. Meuleman, T. Bird, 2005, Nature Genetics.

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.

J. Lupski, C. Broeckhoven, C. van Broeckhoven, 1998, American journal of human genetics.

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.

D. Huylebroeck, N. Verpoorten, K. Verhoeven, 2003, American journal of human genetics.

Genotype–phenotype analysis in patients with giant axonal neuropathy (GAN)

K. Claeys, B. Rautenstrauss, V. Timmerman, 2007, Neuromuscular Disorders.

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

F. Baas, C. Broeckhoven, J. Martín, 1991, Neuromuscular Disorders.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

S. Züchner, K. Zerres, S. Rudnik-Schöneborn, 2003, American journal of human genetics.

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

X. Estivill, E. Mariman, N. Archidiacono, 1996, European journal of human genetics : EJHG.

The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

P. De Jonghe, K. Fischbeck, B. Cullen, 1992, Nature Genetics.

Detection of tandem duplications and implications for linkage analysis.

J. Lupski, T. Matise, P. Patel, 1994, American journal of human genetics.

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

C. van Broeckhoven, N. Haites, E. Nelis, 1999, Human mutation.

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.

C. van Broeckhoven, J. Martín, W. Hul, 1992, Journal of medical genetics.

Clinical Phenotypes of Different MPZ (P0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

J. Lupski, C. Broeckhoven, E. Nelis, 1996, Neuron.

Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation

K. Claeys, V. Timmerman, E. Nelis, 2008, Annals of human genetics.

PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?

G. Holmgren, E. Nelis, R. Adolfsson, 1997, Nature Genetics.

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

P. Brophy, Y. Parman, E. Battaloğlu, 2004, Brain : a journal of neurology.

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3

O. Combarros, N. Verpoorten, V. Timmerman, 2004, Journal of Medical Genetics.

A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.

C. van Broeckhoven, J. Martín, V. Timmerman, 1999, Archives of neurology.

Molecular genetics and biology of inherited peripheral neuropathies: a fast-moving field

C. van Broeckhoven, B. Rautenstrauss, V. Timmerman, 1999, Neurogenetics.

Linkage and mutation analysis of Charcot‐Marie‐Tooth neuropathy type 2 families with chromosomes 1p35‐p36 and Xq13

C. van Broeckhoven, V. Timmerman, E. Nelis, 1996, Neurology.

Two divergent types of nerve pathology in patients with different P sub 0 mutations in Charcot-Marie-Tooth disease

E. Mariman, C. van Broeckhoven, B. V. van Engelen, 1996, Neurology.

Identification of a de novo insertional mutation in P0 in a patient with a Déjérine-Sottas syndrome (DSS) phenotype.

C. van Broeckhoven, B. Rautenstrauss, E. Nelis, 1994, Human molecular genetics.

Estimation of the size of the chromosome 17pll .2 duplication in Charcot-Marie-Tooth neuropathy type la (CMTla)

C. Broeckhoven, W. Hul, V. Timmerman, 2022 .

Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree

C. Broeckhoven, V. Timmerman, E. Nelis, 1992, Journal of the Neurological Sciences.

Advances in Charcot–Marie–Tooth Disease Research: Cellular Function of CMT-Related Proteins, Transgenic Animal Models, and Pathomechanisms

C. Broeckhoven, K. Willecke, U. Suter, 1997, Neurobiology of Disease.

Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.

C. van Broeckhoven, J. Martín, V. Timmerman, 1994, Journal of medical genetics.

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene

S. Züchner, Y. Parman, E. Battaloğlu, 2004, Neurology.

Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3

C. van Broeckhoven, K. Verhoeven, V. Timmerman, 2002, Journal of the peripheral nervous system : JPNS.

Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q

C. van Broeckhoven, J. Meuleman, V. Timmerman, 1997, Neurology.

Identification of a 4 bp deletion (1560de14) in Po gene in a family with severe charcot‐Marie‐Tooth disease

E. Bellone, E. Nelis, C. van Broeckhoven, 1996 .

Detection oftheCMTlA/HNPPrecombination hotspot inunrelated patients ofEuropean

T. Liehr, B. Rautenstrauss, E. Nelis, 1997 .

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy

J. Meuleman, P. Chance, V. Timmerman, 2004, Muscle & nerve.

Detection of the CMTlA/HNPP recombination hotspot in unrelated patients of European descent

J. Lupski, E. Nelis, T. Koeuth, 2022 .

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

M. Pericak-Vance, Y. Parman, M. Muglia, 2004, Nature Genetics.

Tracing Myelin Protein Zero (P0) in vivo by construction of P0-GFP fusion proteins

C. van Broeckhoven, A. Ekici, M. Schachner, 2002, BMC Cell Biology.

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot‐Marie‐Tooth neuropathy patients

E. Nelis, E. Dadali, A. Löfgren, 2000, Human mutation.

Estimation of the size of the chromosome 17pll .2 duplication in Charcot-Marie-Tooth neuropathy type la (CMTla)

C. Broeckhoven, W. Hul, V. Timmerman, 2022 .