DOI : 10.1055/s-00000041

Neuropediatrics

Issue 01 · Volume 35 · February 2004 DOI: 10.1055/s-002-3101


Abstracts for the 30th Annual Meeting of the Society for Neuropediatrics (Gesellschaft für Neuropädiatrie)
Bern, Switzerland, March 25–28, 2004

M. Steinlin
Abstracts (HTML) List of Authors
P61
Marquard, K.; Wörle, H.; Keimer, R.: Hereditary neuropathy with liability to pressure palsies (HNPP) with progressive deafness and demyelination in the central nervous system
P62
Sandkoetter, J.; Debus, O.; Young, P.; Kuhlenbaeumer, G.; Kurlemann, G.: Hereditary motor and sensory neuropathy (HMSN) Ia with cerebellar hypoplasia and ataxia
P63
Ittner, K.; Ding, X.; Hagel, C.; Neuen-Jacob, E.; Herkenrath, P.; Kohlschütter, A.: Congenital peripheral neuropathy with optic atrophy and symmetric white matter lesions
P64
Schara, U.; Klein, W.; Mortier, W.; Schröder, J. M.: Unexpected clinical course in a 9-year-old boy with congenital hypomyelinating neuropathy due to a novel MPZ gene mutation
P65
Debus, O.; Kuhlenbaeumer, G.; Young, P.; Haffkemeyer, U.; Fiedler, B.; Kurlemann, G.: Early lethal Dejerine-Sottas syndrome in a 13-year-old girl with a point mutation in the MPZ-gene also found in the asymptomatic father
P66
Guenther, U. P.; Schuelke, M.; Bertini, E.; Grohmann, K.; Hübner, C.; Varon, R.: A heterozygous genomic rearrangement in a patient with juvenile spinal muscle atrophy with respiratory distress type 1 (SMARD1)
P67
Eichholz, S.; Kretzschmar, B.; Tegtmeyer, F. K.: Spinal muscular atrophy with respiratory distress tpe 1 (SMARD1) – clinical history and rehabilitation of two 24-hours-home-ventilated children
P68
Gruber-Sedlmayr, U.; Brunner-Krainz, M.; Plecko, B.; Löscher, W.; Sieb, J. P.: Congenital myasthenia with homozygotic mutation N88K of the rapsyn gene with infect associated respiratory insufficiency
P69
Schrader, K.; Broxtermann, W.; Sieb, J.; Steinlein, O.; Ebinger, F.; Rating, D.: Congenital myasthenic syndrome in a girl from Albania
P70
Ramelli, G. P.; Joncourt, F.; Gasparini, M.; Tonin, P.: A novel mutation (86insA) in the alpha-sarcoglycan-gene leads to severe childhood autosomal recessive muscular dystrophy