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Neuromuscular Disorders : NMD
|
April 17, 2007
GDAP1 mutations in Czech families with early-onset CMT
L Baránková, E Vyhnálková, S Züchner, et al.
Neuroscience Letters
|
March 6, 1998
Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome
F Stögbauer, P Young, H Wiebusch, et al.
Neurology
|
October 15, 2003
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity
G Lus, E Nelis, A Jordanova, et al.
Nature Genetics
|
June 1, 1992
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
V Timmerman, E Nelis, W Van Hul, et al.
Neurology
|
June 17, 1999
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
V 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 gene
N 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 Group
P Raeymaekers, V Timmerman, E Nelis, 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 patients
I 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 phenotype
P 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 palsies
S Bort, E Nelis, V Timmerman, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 47) with videos related to
Sort By:
Page
of 5
Neuromuscular Disorders : NMD
|
April 17, 2007
GDAP1 mutations in Czech families with early-onset CMT
L Baránková, E Vyhnálková, S Züchner, et al.
Neuroscience Letters
|
March 6, 1998
Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome
F Stögbauer, P Young, H Wiebusch, et al.
Neurology
|
October 15, 2003
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity
G Lus, E Nelis, A Jordanova, et al.
Nature Genetics
|
June 1, 1992
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
V Timmerman, E Nelis, W Van Hul, et al.
Neurology
|
June 17, 1999
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
V 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 gene
N 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 Group
P Raeymaekers, V Timmerman, E Nelis, 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 patients
I 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 phenotype
P 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 palsies
S Bort, E Nelis, V Timmerman, et al.
Page
of 5