Zobrazeno 1 - 10 of 46 pro vyhledávání: '"H Schnorf"'
1
Restless legs syndrome: an early manifestation of Huntington’s disease?
Autor: H. Schnorf, Elena Savva, Pierre R. Burkhard
Publikováno v: Acta Neurologica Scandinavica, Vol. 119, No 4 (2009) pp. 274-276
BACKGROUND: Far from being uniform, Huntington's disease (HD)'s phenotype encompasses a large variety of motor and non-motor symptoms which occur in various combinations in individual patients. AIM: To describe an unusual association between restless
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba40ec09c618ec2b4c9b495f7e69342c
https://doi.org/10.1111/j.1600-0404.2008.01091.x
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2
Phenotypic heterogeneity of dopa-responsive dystonia in monozygotic twins
Autor: Michael A. Morris, Isabelle Moix, Pierre Burkhard, Judit Horvath, Olga Prilipko, H. Schnorf, H Grötzsch
Publikováno v: Neurology, Vol. 62, No 4 (2004) pp. 637-9
The clinical expression of dopa-responsive dystonia (DRD) was found to be different in a pair of affected monozygotic twins. An earlier onset was associated with a more disabling course of disease. Whereas monozygosity was genetically proven, the sea
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d9cb9513dc976056f1180d6fcab13bc
https://doi.org/10.1212/01.wnl.0000110192.27794.e8
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5
[Adult form of GM2-gangliosidosis: a man and 2 sisters with hexosaminidase-A and -B deficiency (Sandhoff disease) and literature review]
Autor: H, Schnorf, N U, Bosshard, R, Gitzelmann, M A, Spycher, P, Isler, W, Waespe
Publikováno v: Schweizerische medizinische Wochenschrift. 126(18)
Three adult siblings had atypical progressive spinal muscular atrophy of the limb-girdle type, predominantly sensory polyneuropathy and cerebellar ataxia. Hexosaminidase A and B activity was profoundly decreased in serum, leukocytes and cultured fibr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::23b1a81c8f15cb7de518156bca26c943
https://pubmed.ncbi.nlm.nih.gov/8693300
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6
Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease)
Autor: W Waespe, Max A. Spycher, H Schnorf, Gitzelmann R, N U Bosshard
Publikováno v: Journal of neurology, neurosurgery, and psychiatry. 59(5)
Three siblings in their sixth and seventh decade with hexosaminidase A and B deficiency (adult form of GM2-gangliosidosis, variant O) developed early and severe sensory loss in addition to chronic motor neuron disease and cerebellar ataxia. Prominent
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::470fa7052ae1b241a3a7f13dc86034f7
https://pubmed.ncbi.nlm.nih.gov/8530938
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7
[Imported dengue fever following a stay in the tropics]
Autor: C, Hasler, H, Schnorf, N, Enderlin, K, Gyr
Publikováno v: Schweizerische medizinische Wochenschrift. 123(4)
We report on a tourist returning from Thailand, who presented with classical dengue fever. While in Thailand a 36-year-old Swiss female laboratory assistant suddenly developed fever, devastating headache, retro-ocular pain, myalgia and arthralgia, ph
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9f1352f5d089eb9fdc56fb9c27fd824a
https://pubmed.ncbi.nlm.nih.gov/8426957
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