Zobrazeno 1 - 10
of 232
pro vyhledávání: '"W. Mortier"'
Publikováno v:
Acta Paediatrica. 88:62-65
In Duchenne muscular dystrophy (DMD), short stature is a feature of unknown cause. This cross-sectional study of 34 male patients (mean age 8.0 y, age range 1.2-13.7 y) was conducted to examine the relationship between auxological parameters, markers
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74c8273b0f28f95eb86611b87b1f6a1b
https://doi.org/10.1111/j.1651-2227.1999.tb01270.x
https://doi.org/10.1111/j.1651-2227.1999.tb01270.x
Publikováno v:
Der Nervenarzt. 75:1231-1247
Among the group of clinically and genetically heterogeneous spinal muscular atrophies(SMA), the autosomal recessive proximal types I-III are the most frequent. They are caused by mutations of the telomeric copy of the survival motor neuron gene (SMN1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45b03d14a8e3248abaa2a4d84b88815e
https://doi.org/10.1007/s00115-004-1846-9
https://doi.org/10.1007/s00115-004-1846-9
Autor:
W. Mortier, U. Schara
Publikováno v:
Monatsschrift Kinderheilkunde. 151:1221-1239
Traditionell sind Muskeldystrophien (MD) progressive, hereditare und primar degenerative Myopathien; aufgrund molekularer Befunde fasst man MD heute besser als klinisch und genetisch heterogene Myopathien auf, die durch Proteindefekte im Muskelgewebe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b770df07e7766d20c482c84e5136798d
https://doi.org/10.1007/s00112-003-0835-6
https://doi.org/10.1007/s00112-003-0835-6
Publikováno v:
Journal of Clinical Neuromuscular Disease. 2:179-183
Purpose In tins retrospective study, positive results and side effects of long-term steroid treatment for Duchenne muscular dystrophy were analyzed. Results of an average follow-up period of 65 months (range, 49-79 mo) are described. Methods Nineteen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38860b33eb4f347acd3a26d70b99da86
https://doi.org/10.1097/00131402-200106000-00002
https://doi.org/10.1097/00131402-200106000-00002
Publikováno v:
Der Anaesthesist. 49:187-195
UNLABELLED During the last 30 years a great number of case reports presented severe anaesthetic complications with sudden cardiac arrest in patients with muscular dystrophies, mostly unsuspected at the time of the event. As succinylcholine was involv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d0cc55bdd4681b3190a8c913c5081bbe
https://doi.org/10.1007/s001010050813
https://doi.org/10.1007/s001010050813
Autor:
W. Mortier, M. Hofmann, C. Deutrich, Frank Lehmann-Horn, B. Schwefler, J. Scholz, E. Hartung, Frank Wappler, S. Doetsch, J.-P. Jantzen, D. Olthoff, Martin Anetseder, Ch. Baur, I. Tzanova, S. Quasthoff
Publikováno v:
AINS - Anästhesiologie · Intensivmedizin · Notfallmedizin · Schmerztherapie. 33:238-243
Malignant hyperthermia (MH) is a rare autosomally dominantly hereditary and potentially life-threatening disease. The prevalence of the genetic MH predisposition is estimated as 1:10,000 to 1:20,000. In Germany no data on the regional distribution ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f12f849b42e661ec1f34472ee265134d
https://doi.org/10.1055/s-2007-994238
https://doi.org/10.1055/s-2007-994238
Autor:
F. R. Ellis, H. Kress, H. Ørding, M. Snoeck, S. Cozzolino, W. Mortier, R. Krtvosic‐Horber, James J. A. Heffron, Paul Stieglitz, V. Brancadoro, L. Heytens, Y Nivoche, Albert Urwyler, E. Ranklev‐Twetman, Frank Wappler, Vincenzo Tegazzin, S. Sigurdsson, Frank Lehmann-Horn, P. J. Halsall, G. Kozak‐Ribbens, E. Hartung, V. Glauber, E. F. Gonano
Publikováno v:
Acta Anaesthesiologica Scandinavica. 41:955-966
Background: Determination of sensitivity and specificity of the in vitro contracture test (IVCT) for malignant hyperthermia (MH) susceptibility using the European MH Group (EMHG) protocol has been performed in some laboratories but only on a small sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::96a89c00dfd83bcab640836927dea93f
https://doi.org/10.1111/j.1399-6576.1997.tb04820.x
https://doi.org/10.1111/j.1399-6576.1997.tb04820.x
Autor:
U, Schara, W, Mortier
Publikováno v:
Der Nervenarzt. 76(2)
Traditionally, muscular dystrophies (MDs) are progressive, hereditary, and primarily degenerative myopathies. Nowadays, due to molecular biology, MDs are looked upon as clinically and genetically heterogeneous myopathies characterized by protein defe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3a3a3345700f42610e615eba15ac4bd
https://pubmed.ncbi.nlm.nih.gov/16092148
https://pubmed.ncbi.nlm.nih.gov/16092148
Autor:
U, Schara, W, Mortier
Publikováno v:
Der Nervenarzt. 75(12)
Among the group of clinically and genetically heterogeneous spinal muscular atrophies(SMA), the autosomal recessive proximal types I-III are the most frequent. They are caused by mutations of the telomeric copy of the survival motor neuron gene (SMN1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::590ae3b79348585cb52056d51bc22e50
https://pubmed.ncbi.nlm.nih.gov/15756726
https://pubmed.ncbi.nlm.nih.gov/15756726
Publikováno v:
Musclenerve. 24(3)
Mutations in the sarcoglycan (SG) genes cause a subset of limb-girdle muscular dystrophies (LGMD). We report a Spanish patient with progressive LGMD exhibiting an almost isolated loss of gamma-SG and a homozygous Delta521-T mutation in the gamma-SG g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ce7f92476e3ef7b5fe17067233e0e2b5
https://pubmed.ncbi.nlm.nih.gov/11353430
https://pubmed.ncbi.nlm.nih.gov/11353430