Zobrazeno 1 - 10
of 344
pro vyhledávání: '"H. Bernheimer"'
Publikováno v:
Journal of Clinical Neuromuscular Disease. 24:169-170
Autor:
James H. Bernheimer, Gregory Gasbarro
Publikováno v:
Journal of clinical neuromuscular disease. 23(4)
Autor:
James H. Bernheimer
Publikováno v:
Multiple Sclerosis International, Vol 2011 (2011)
Restless legs syndrome is common in patients with multiple sclerosis but has not been reported as occurring due to an acute, inflammatory, demyelinating attack. Restless legs syndrome is known to be related to low brain iron levels. Multiple sclerosi
Externí odkaz:
https://doaj.org/article/ef7d5cdc763c4c11aaeec2b661c41a60
Autor:
H. Bernheimer, M. Gärtner, Markus A. Hölzl, Gere Sunder-Plassmann, Gerhard J. Zlabinger, Johannes J. Kovarik, Johannes Hofer
Publikováno v:
Clinica Chimica Acta. 411:1666-1670
Background Mutations of the α-galactosidase (α-Gal) A gene in Fabry disease lead to a severe disturbance in glycosphingolipid catabolism. The atypical clinical picture of Fabry disease hampers diagnosis, resulting in a delayed start of therapy. Cur
Autor:
Romana Höftberger, Jan Bauer, Fahmy Aboul-Enein, Ursula Unterberger, Ferenc Garzuly, Johannes Berger, Günther Regelsberger, Herbert Budka, Till Voigtländer, Markus Kunze, H. Bernheimer, Sonja Forss-Petter
Publikováno v:
Endocrinology. 151:4801-4810
The peptide hormones ACTH, MSHs, β-lipotropin (β-LPH), and β-endorphin are all derived from the precursor molecule proopiomelanocortin (POMC). Using confocal laser microscopy and immunoelectron microscopy in human pituitary gland, we demonstrate a
Publikováno v:
Clinical Biochemistry. 40:1037-1044
Objectives: Our aim was to replace cultured skin fibroblasts in the diagnosis of X-linked adrenoleukodystrophy (X-ALD) by peripheral blood cells. Design and methods: Very long chain fatty acids (VLCFAs) were analyzed in leukocytes from X-ALD patients
Autor:
A. Ruiz Bremón, Franco Cardone, Steven J. Collins, Richard Knight, Ashley Fletcher, Inga Zerr, N. Cuadrado Corrales, Robert G. Will, Maurizio Pocchiari, Monika Bodemer, Anna Ladogana, Sigrid Poser, H. Bernheimer, N. Delasnerie-Laupretre, J de Pedro Cuesta, Jean-Louis Laplanche, Herbert Budka, T. Awan, J.-P. Brandel
Publikováno v:
Neurology. 55:811-815
Objective: To improve diagnostic criteria for sporadic Creutzfeldt–Jakob disease (CJD).Methods: Pooled data on initial and final diagnostic classification of suspected CJD patients were accumulated, including results of investigations derived from
Publikováno v:
Journal of Infection. 41:32-38
Objectives : To study the occurrence of cross-reactivities of antibodies against infectious agents with human nervous tissue. Methods : Binding of 25 antibodies against 17 neurotropic pathogens comprising Borrelia burgdorferi , Toxoplasma gondii , an
Publikováno v:
Infection and Immunity. 67:2414-2420
We studied serum antibodies against gangliosides GQ1b and GM1 in 13 patients with Miller Fisher syndrome (MFS) and in 18 patients with Guillain-Barré syndrome (GBS) with cranial nerve involvement. Anti-GQ1b titers were elevated in all patients with
Publikováno v:
Human Mutation. 13:61-68
In a family with three siblings, one developed classical late infantile metachromatic leukodystrophy (MLD), fatal at age 5 years, with deficient arylsulfatase A (ARSA) activity and increased galactosylsulfatide (GS) excretion. The two other siblings,