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V Timmerman

Showing results (81-90 of 105) with videos related to

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Neurology|June 17, 1999
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotypeV Timmerman, P De Jonghe, C Ceuterick, et al.
Neurology|May 12, 2004
Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second geneN Bissar-Tadmouri, E Nelis, S Züchner, et al.
Neuromuscular Disorders : NMD|January 1, 1991
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research GroupP Raeymaekers, V Timmerman, E Nelis, et al.
Human Genetics|January 1, 1996
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)V Timmerman, A Löfgren, E Le Guern, et al.
Human Mutation|March 29, 2000
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patientsI V Mersiyanova, S M Ismailov, A V Polyakov, et al.
Brain : a Journal of Neurology|March 10, 1999
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotypeP De Jonghe, V Timmerman, C Ceuterick, et al.
Human Genetics|June 1, 1997
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 palsiesS Bort, E Nelis, V Timmerman, et al.
Journal of Neurology|November 18, 2000
PMP22 Thr118Met is not a clinically relevant CMT1 markerP Young, F Stögbauer, B Eller, et al.
Brain : a Journal of Neurology|May 23, 2002
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?P De Jonghe, M Auer-Grumbach, J Irobi, et al.
Human Genetics|March 7, 1998
Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysisK G Michels-Rautenstrauss, C Y Mardin, W M Budde, et al.
Pageof 11

Showing results (81-90 of 105) with videos related to

Sort By:
Pageof 11
Neurology|June 17, 1999
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotypeV Timmerman, P De Jonghe, C Ceuterick, et al.
Neurology|May 12, 2004
Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second geneN Bissar-Tadmouri, E Nelis, S Züchner, et al.
Neuromuscular Disorders : NMD|January 1, 1991
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research GroupP Raeymaekers, V Timmerman, E Nelis, et al.
Human Genetics|January 1, 1996
Molecular genetic analysis of the 17p11.2 region in patients with hereditary neuropathy with liability to pressure palsies (HNPP)V Timmerman, A Löfgren, E Le Guern, et al.
Human Mutation|March 29, 2000
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patientsI V Mersiyanova, S M Ismailov, A V Polyakov, et al.
Brain : a Journal of Neurology|March 10, 1999
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotypeP De Jonghe, V Timmerman, C Ceuterick, et al.
Human Genetics|June 1, 1997
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 palsiesS Bort, E Nelis, V Timmerman, et al.
Journal of Neurology|November 18, 2000
PMP22 Thr118Met is not a clinically relevant CMT1 markerP Young, F Stögbauer, B Eller, et al.
Brain : a Journal of Neurology|May 23, 2002
Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?P De Jonghe, M Auer-Grumbach, J Irobi, et al.
Human Genetics|March 7, 1998
Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysisK G Michels-Rautenstrauss, C Y Mardin, W M Budde, et al.
Pageof 11