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Results: 1-10 |
Results: 10
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain basesubunit-1, cause hereditary sensory neuropathy type I
Authors: Dawkins, JL Hulme, DJ Brahmbhatt, SB Auer-Grumbach, M Nicholson, GA
Citation: Jl. Dawkins et al., Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain basesubunit-1, cause hereditary sensory neuropathy type I, NAT GENET, 27(3), 2001, pp. 309-312
Proximal myotonic myopathy (PROMM): a new syndrome with neurological, internal, orthopedical, and ophthalmological features
Authors: Auer-Grumbach, M Hartung, HP
Citation: M. Auer-grumbach et Hp. Hartung, Proximal myotonic myopathy (PROMM): a new syndrome with neurological, internal, orthopedical, and ophthalmological features, WIEN KLIN W, 113(13-14), 2001, pp. 485-490
Hereditary sensory neuropathy type I: Haplotype analysis shows founders insouthern England and Europe
Authors: Nicholson, GA Dawkins, JL Blair, IP Auer-Grumbach, M Brahmbhatt, SB Hulme, DJ
Citation: Ga. Nicholson et al., Hereditary sensory neuropathy type I: Haplotype analysis shows founders insouthern England and Europe, AM J HU GEN, 69(3), 2001, pp. 655-659
Comparison of second lumbrical and interosseus latencies with standard measures of median nerve function across the carnal tunnel: a prospective study of 450 hands
Authors: Loscher, WN Auer-Grumbach, M Trinka, E Ladurner, G Hartung, HP
Citation: Wn. Loscher et al., Comparison of second lumbrical and interosseus latencies with standard measures of median nerve function across the carnal tunnel: a prospective study of 450 hands, J NEUROL, 247(7), 2000, pp. 530-534
Clinical predominance of proximal upper limb weakness in CMT1A syndrome
Authors: Auer-Grumbach, M Wagner, K Strasser-Fuchs, S Loscher, WN Fazekas, F Millner, M Hartung, HP
Citation: M. Auer-grumbach et al., Clinical predominance of proximal upper limb weakness in CMT1A syndrome, MUSCLE NERV, 23(8), 2000, pp. 1243-1249
Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus
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
Ulcero-mutilating neuropathy in an Austrian kinship without linkage to hereditary motor and sensory neuropathy IIB and hereditary sensory neuropathy I loci
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
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V - A clinical, electrophysiological and genetic study
Authors: Auer-Grumbach, M Loscher, WN Wagner, K Petek, E Korner, E Offenbacher, H Hartung, HP
Citation: M. Auer-grumbach et al., Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V - A clinical, electrophysiological and genetic study, BRAIN, 123, 2000, pp. 1612-1623
Troyer syndrome: a combination of central brain abnormality and motor neuron disease?
Authors: Auer-Grumbach, M Fazekas, F Radner, H Irmler, A Strasser-Fuchs, S Hartung, HP
Citation: M. Auer-grumbach et al., Troyer syndrome: a combination of central brain abnormality and motor neuron disease?, J NEUROL, 246(7), 1999, pp. 556-561
Current classification and genotype-phenotype correlations in hereditary motoric-sensitive neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies
Authors: Auer-Grumbach, M Wagner, K Fazekas, F Loscher, WN Strasser-Fuchs, S Hartung, HP
Citation: M. Auer-grumbach et al., Current classification and genotype-phenotype correlations in hereditary motoric-sensitive neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies, NERVENARZT, 70(12), 1999, pp. 1052-1061
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