Zobrazeno 1 - 10 of 23 pro vyhledávání: '"N. Strigl-Pill"'
1
Toward deconstructing the phenotype of late-onset Pompe disease
Autor: Stephan Wenninger, Angela Schüller, N. Strigl-Pill, Benedikt Schoser
Publikováno v: American Journal of Medical Genetics Part C: Seminars in Medical Genetics. :80-88
Pompe disease (glycogen storage disease type 2 or acid maltase deficiency) is a rare autosomal recessive lysosomal storage disorder. Since the advent of ERT a lot has been learned about the phenotypic spectrum especially in the late onset patients. W
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29d87e7ed34b5e216266ad91df5a03de
https://doi.org/10.1002/ajmg.c.31322
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2
Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy
Autor: Wolfram Kress, Josef Müller-Höcker, Peter Schneiderat, Benedikt Schoser, Nicolai Schramm, Joachim Weis, N. Strigl-Pill, Hanns Lochmüller, Maggie C. Walter, Andreas Ferbert, Sabine Rudnik-Schöneborn, Peter Reilich, Johannes Noth
Publikováno v: Journal of Neurology. 257:1108-1118
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common muscular dystrophy and usually follows an autosomal dominant trait. Clinically, FSHD affects facial muscles and proximal upper limb and girdle muscles, but may present with variab
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb398b71530cbddff1a33549eb9b5d4e
https://doi.org/10.1007/s00415-010-5471-1
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3
Long-term efficiency of intravenously administered immunoglobulin in anti-Yo syndrome with paraneoplastic cerebellar degeneration
Autor: Beate Schlotter-Weigel, Benedikt Schoser, Maggie C. Walter, Peter Reilich, M. Schuberth, Peter Schneiderat, N. Strigl-Pill, Joachim Schessl
Publikováno v: Journal of Neurology. 258:946-947
Paraneoplastic cerebellar degeneration (PCD) is a rare heterogeneous group of disorders associated with cancer and anti-neuronal antibodies. Patients display symptoms reflecting cerebellar dysfunction including dysarthria, severe ataxia and abnormal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::07153bc4f70737a45f5bc86eadb15a1c
https://doi.org/10.1007/s00415-010-5859-y
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5
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial
Autor: C. Wessig, M. Spranger, A. Brejova, Cornelia Kornblum, Eugen Mengel, Max J. Hilz, B. Grunert, Karlheinz Reiners, N. Strigl-Pill, Stefan Vielhaber, F. Breunig, S. Strothotte, F.X. Glocker, K. Eger, Benedikt Schoser, Wolfgang Müller-Felber, Marcus Deschauer
Publikováno v: Journal of neurology. 257(1)
Late-onset glycogen storage disease type 2 (GSD2)/Pompe disease is a progressive multi-system disease evoked by a deficiency of lysosomal acid alpha-glucosidase (GAA) activity. GSD2 is characterized by respiratory and skeletal muscle weakness and atr
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbd214b9ced018d4cfcdc61005f28cbc
https://pubmed.ncbi.nlm.nih.gov/19649685
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6
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations
Autor: Angela Abicht, Ulrike Schara, Nina Barišić, Marcus Deschauer, Volker Straub, Juliane S. Müller, Hanns Lochmüller, M. Wendt, N. Strigl-Pill, Christopher Lindberg
In congenital myasthenic syndrome with DOK7 mutations ephedrine was reported to be beneficial in single patients. We carried out a small, open and prospective cohort study in eight European patients manifesting from birth to 12 years. Five patients s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db463a1c6dfc488b6582c232ca93fb8e
https://www.ncbi.nlm.nih.gov/pubmed/19837590
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8
Prediction of response to IVIg treatment in patients with lower motor neurone disorders
Autor: M. Schröder, N. Strigl-Pill, M Spaeth, Wolfgang Müller-Felber, Benedikt Schoser, A. König, H. Beranek, Dieter Pongratz
Publikováno v: European journal of neurology. 13(2)
The distinction between multifocal motor neuropathy, treatable by intravenous immunoglobulins (IVIg), and degenerative motor neurone disorders is often difficult. To find predictive factors for the response to IVIg treatment, 40 consecutive patients
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71c731de50e094f8ebadd279a4b0f382
https://pubmed.ncbi.nlm.nih.gov/16490043
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10
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