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Results:
1-25
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Results: 25
Authors:
Ismailov, SM
Fedotov, VP
Dadali, EL
Polyakov, AV
Van Broeckhoven, C
Ivanov, VI
De Jonghe, P
Timmerman, V
Evgrafov, OV
Citation: Sm. Ismailov et al., A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21, EUR J HUM G, 9(8), 2001, pp. 646-650
Authors:
Hanemann, CO
Gabreels-Festen, AAWM
De Jonghe, P
Citation: Co. Hanemann et al., Axon damage in CMT due to mutation in myelin protein P0, NEUROMUSC D, 11(8), 2001, pp. 753-756
Authors:
Meuleman, J
Pou-Serradell, A
Lofgren, A
Ceuterick, C
Martin, JJ
Timmerman, V
Van Broeckhoven, C
De Jonghe, P
Citation: J. Meuleman et al., A novel 3 '-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies, NEUROMUSC D, 11(4), 2001, pp. 400-403
Authors:
Venken, K
Meuleman, J
Irobi, J
Ceuterick, C
Martini, R
De Jonghe, P
Timmerman, V
Citation: K. Venken et al., CasprI/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies, NEUROREPORT, 12(11), 2001, pp. 2609-2614
Authors:
De Jonghe, P
Mersivanova, I
Nelis, E
Del Favero, J
Martin, JJ
Van Broeckhoven, C
Evgrafov, OC
Timmerman, V
Citation: P. De Jonghe et al., Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E, ANN NEUROL, 49(2), 2001, pp. 245-249
Authors:
Ceuterick-de Groote, C
De Jonghe, P
Timmerman, V
Van Goethem, G
Lofgren, A
Ceulemans, B
Van Broeckhoven, C
Martin, JJ
Citation: C. Ceuterick-de Groote et al., Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy, PATH RES PR, 197(3), 2001, pp. 193-198
Authors:
Meuleman, J
Kuhlenbaumer, G
Audenaert, D
Hunermund, G
Hor, H
Young, P
Stogbauer, F
Ringelstein, EB
Van Broeckhoven, C
De Jonghe, P
Timmerman, V
Citation: J. Meuleman et al., Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy(HNA), HUM GENET, 108(5), 2001, pp. 390-393
Authors:
Kuhlenbaumer, G
Meuleman, J
De Jonghe, P
Falck, B
Young, P
Hunermund, G
Van Broeckhoven, C
Timmerman, V
Stogbauer, F
Citation: G. Kuhlenbaumer et al., Hereditary neuralgic amyotrophy (HNA) is genetically heterogeneous, J NEUROL, 248(10), 2001, pp. 861-865
Authors:
Muglia, M
Zappia, M
Timmerman, V
Valentino, P
Gabriele, AL
Conforti, FL
De Jonghe, P
Ragno, M
Mazzei, R
Sabatelli, M
Nicoletti, G
Patitucci, AM
Oliveri, RL
Bono, F
Gambardella, A
Quattrone, A
Citation: M. Muglia et al., Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy, NEUROLOGY, 56(1), 2001, pp. 100-103
Authors:
Verhoeven, K
Villanova, M
Rossi, A
Malandrini, A
De Jonghe, P
Timmerman, V
Citation: K. Verhoeven et al., Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1, AM J HU GEN, 69(4), 2001, pp. 889-894
Authors:
Claes, L
Del-Favero, J
Ceulemans, B
Lagae, L
Van Broeckhoven, C
De Jonghe, P
Citation: L. Claes et al., De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy, AM J HU GEN, 68(6), 2001, pp. 1327-1332
Authors:
De Jonghe, P
Timmerman, V
Nelis, E
Citation: P. De Jonghe et al., Hereditary peripheral neuropathies, MG CLIN NEU, 18, 2000, pp. 128-146
Authors:
Timmerman, V
De Jonghe, P
Van Broeckhoven, C
Citation: V. Timmerman et al., Of giant axons and curly hair, NAT GENET, 26(3), 2000, pp. 254-255
Authors:
Kuhlenbaumer, G
Stogbauer, F
Timmerman, V
De Jonghe, P
Citation: G. Kuhlenbaumer et al., Diagnostic guidelines for hereditary neuralgic amyotrophy or heredofamilial neuritis with brachial plexus predilection, NEUROMUSC D, 10(7), 2000, pp. 515-517
Authors:
Irobi, J
Tissir, F
De Jonghe, P
De Vriendt, E
Van Broeckhoven, C
Timmerman, V
Beuten, J
Citation: J. Irobi et al., A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene, GENOMICS, 65(1), 2000, pp. 34-43
Authors:
Hargrave, M
James, K
Nield, K
Toomes, C
Georgas, K
Sullivan, T
Verzijl, HTFM
Oley, CA
Little, M
De Jonghe, P
Kwon, JM
Kremer, H
Dixon, MJ
Tirnmerman, V
Yamada, T
Koopman, P
Citation: M. Hargrave et al., Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases, HUM GENET, 106(4), 2000, pp. 432-439
Authors:
Meuleman, J
Timmerman, V
Nelis, E
De Jonghe, P
Citation: J. Meuleman et al., Molecular genetics of inherited peripheral neuropathies: who are the actors?, ACT NEUR BE, 100(3), 2000, pp. 171-180
Authors:
Auer-Grumbach, M
De Jonghe, P
Wagner, K
Verhoeven, K
Hartung, HP
Timmerman, V
Citation: M. Auer-grumbach et al., Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus, NEUROLOGY, 55(10), 2000, pp. 1552-1557
Authors:
Stogbauer, F
Young, P
Kuhlenbaumer, G
De Jonghe, P
Timmerman, V
Citation: F. Stogbauer et al., Hereditary recurrent focal neuropathies - Clinical and molecular features, NEUROLOGY, 54(3), 2000, pp. 546-551
Authors:
Auer-Grumbach, M
Wagner, K
Timmerman, V
De Jonghe, P
Hartung, HP
Citation: M. Auer-grumbach et al., Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci, NEUROLOGY, 54(1), 2000, pp. 45-52
Authors:
Meuleman, J
Kuhlenbaumer, G
Schirmacher, A
Wehnert, M
De Jonghe, P
De Vriendt, E
Young, P
Airaksinen, E
Pou-Serradell, A
Prats, JM
Ringelstein, B
Stogbauer, F
Van Broeckhoven, C
Timmerman, V
Citation: J. Meuleman et al., Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25, EUR J HUM G, 7(8), 1999, pp. 920-927
Authors:
Del-Favero, J
Goossens, D
De Jonghe, P
Benson, K
Michalik, A
Van den Bossche, D
Horwitz, M
Van Broeckhoven, C
Citation: J. Del-favero et al., Isolation of CAG/CTG repeat from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPC4) by YAC fragmentation, HUM GENET, 105(3), 1999, pp. 217-225
Authors:
Timmerman, V
De Jonghe, P
Ceuterick, C
De Vriendt, E
Lofgren, A
Nelis, E
Warner, LE
Lupski, JR
Martin, JJ
Van Broeckhoven, C
Citation: V. Timmerman et al., Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype, NEUROLOGY, 52(9), 1999, pp. 1827-1832
Authors:
De Jonghe, P
Timmerman, V
Ceuterick, C
Nelis, E
De Vriendt, E
Lofgren, A
Vercruyssen, A
Verellen, C
Van Maldergem, L
Martin, JJ
Van Broeckhoven, C
Citation: P. De Jonghe et al., The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene isassociated with a clinically distinct Charcot-Marie-Tooth phenotype, BRAIN, 122, 1999, pp. 281-290
Authors:
De Jonghe, P
Timmerman, V
Nelis, E
De Vriendt, E
Lofgren, A
Ceuterick, C
Martin, JJ
Van Broeckhoven, C
Citation: P. De Jonghe et al., A novel type of hereditary motor and sensory neuropathy characterized by amild phenotype, ARCH NEUROL, 56(10), 1999, pp. 1283-1288
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