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Results: 1-25/31
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:
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:
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:
Mersiyanova, IV
Ismailov, SM
Polyakov, AV
Dadali, EL
Fedotov, VP
Nelis, E
Lofgren, A
Timmerman, V
Van Broeckhoven, C
Evgrafov, OV
Citation: Iv. Mersiyanova et al., Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32(GJB1) in Russian Charcot-Marie-Tooth neuropathy patients (vol 15, pg 340,2000), HUM MUTAT, 16(2), 2000, pp. 175-175
Authors:
Mersiyanova, IV
Ismailov, SM
Polyakov, AV
Dadali, EL
Fedotov, VP
Nelis, E
Lofgren, A
Timmerman, V
Van Broeckhoven, C
Evgrafov, OV
Citation: Iv. Mersiyanova et al., Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32(GJB1) in Russian Charcot-Marie-Tooth neuropathy patients, HUM MUTAT, 15(4), 2000, pp. 340-347
Authors:
Senderek, J
Hermanns, B
Lehmann, U
Bergmann, C
Marx, G
Kabus, C
Timmerman, V
Stoltenburg-Didinger, G
Schroder, JM
Citation: J. Senderek et al., Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: Two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met, BRAIN PATH, 10(2), 2000, pp. 235-248
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:
Young, P
Stogbauer, F
Eller, B
de Jonghe, P
Lofgren, A
Timmerman, V
Rautenstrauss, B
Oexle, K
Grehl, H
Kuhlenbaumer, G
Van Broeckhoven, C
Ringelstein, EB
Funke, H
Citation: P. Young et al., PMP22 Thr118Met is not a clinically relevant CMT1 marker, J NEUROL, 247(9), 2000, pp. 696-700
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:
Leonardis, L
Zidar, J
Popovic, M
Timmerman, V
Lofgren, A
Van Broeckhoven, C
Butinar, D
Citation: L. Leonardis et al., Hereditary motor and sensory neuropathy associated with auditory neuropathy in a Gypsy family, PFLUG ARCH, 439(3), 2000, pp. R208-R210
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:
Stronach, EA
Clark, C
Bell, C
Lofgren, A
McKay, NG
Timmerman, V
Van Broeckhoven, C
Haites, NE
Citation: Ea. Stronach et al., Novel PCR-based diagnostic tools for Charcot-Marie-Tooth type 1A and hereditary neuropathy with liability to pressure palsies, J PERIPH N, 4(2), 1999, pp. 117-122
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:
Kuhlenbaumer, G
Schirmacher, A
Meuleman, J
Tissir, F
Del-Favero, J
Stogbauer, F
Young, P
Ringelstein, B
Van Broeckhoven, C
Timmerman, V
Citation: G. Kuhlenbaumer et al., A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes, GENOMICS, 62(2), 1999, pp. 242-250