Detalhe da pesquisa
1.
[Principles of translational gene therapy for neuromuscular diseases]. / Prinzipien der translationalen Gentherapie für neuromuskuläre Erkrankungen.
Nervenarzt
; 93(6): 537-548, 2022 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-35384490
2.
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
Neuropathol Appl Neurobiol
; 46(4): 359-374, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31545528
3.
[Innovative therapeutic approaches for hereditary neuromuscular diseases]. / Innovative Therapieansätze bei hereditären neuromuskulären Erkrankungen.
Nervenarzt
; 89(10): 1115-1122, 2018 Oct.
Artigo
em Alemão
| MEDLINE | ID: mdl-30171303
4.
European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience.
Eur J Neurol
; 24(6): 768-e31, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28477382
5.
[Educational and Professional Qualifications of Adults With Myotonic Dystrophies - A Misleading Perception by the Myopathic Face?]. / Ausbildung und berufliche Qualifikation von Erwachsenen mit Myotonen Dystrophien - eine fehlgeleitete Wahrnehmung durch die Facies myopathica?
Fortschr Neurol Psychiatr
; 84(4): 211-6, 2016 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-27100845
6.
Sleep-related symptoms and sleep-disordered breathing in adult Pompe disease.
Eur J Neurol
; 22(2): 369-76, e27, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25367349
7.
[The Spectrum of Neuromyotonia: Clinics, Therapy and Outcome]. / Das Spektrum der Neuromyotonie: Klinik, Therapie und Langzeitverlauf.
Fortschr Neurol Psychiatr
; 83(8): 457-62, 2015 Aug.
Artigo
em Alemão
| MEDLINE | ID: mdl-26327478
8.
Pain in adult patients with Pompe disease: a cross-sectional survey.
Mol Genet Metab
; 109(4): 371-6, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23849261
9.
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
Nat Genet
; 28(3): 218-9, 2001 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-11431690
10.
[Diagnosis and therapy of late onset Pompe disease]. / Diagnose und Therapie des Late-onset-Morbus-Pompe.
Nervenarzt
; 84(12): 1467-72, 2013 Dec.
Artigo
em Alemão
| MEDLINE | ID: mdl-24264645
11.
[Congenital and endogenous endocrine myopathy]. / Angeborene und Endogene Endokrine Myopathien.
Z Rheumatol
; 70(9): 760-2, 764-6, 2011 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-21904835
12.
[Neuromuscular signal transmission in adulthood. Current facets of acquired and hereditary disorders]. / Neuromuskuläre Signalübertragung im Erwachsenenalter. Aktuelle Facetten erworbener und angeborener Störungen.
Nervenarzt
; 82(6): 707-11, 2011 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-21584790
13.
Dyslexia and cognitive impairment in adult patients with myotonic dystrophy type 1: a clinical prospective analysis.
J Neurol
; 268(2): 484-492, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32851461
14.
Glycogen storage diseases of all types.
J Inherit Metab Dis
; 38(3): 389-90, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25940909
15.
Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective study.
Eur J Neurol
; 17(6): 842-5, 2010 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20100232
16.
[Myalgia and myopathy]. / Myalgie und Myopathie.
Z Rheumatol
; 74(6): 488-9, 2015 Aug.
Artigo
em Alemão
| MEDLINE | ID: mdl-26169746
17.
[Lipid storage myopathies. A clinical and pathobiochemical challenge]. / Lipidspeichermyopathien. Eine klinische und pathobiochemische Herausforderung.
Nervenarzt
; 81(12): 1460-6, 2010 Dec.
Artigo
em Alemão
| MEDLINE | ID: mdl-20401599
18.
Physiology, pathophysiology and diagnostic significance of autophagic changes in skeletal muscle tissue--towards the enigma of rimmed and round vacuoles.
Clin Neuropathol
; 28(1): 59-70, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19216222
19.
[Metabolic myopathies - an overview]. / Metabolische Myopathien - ein Uberblick.
Pathologe
; 30(5): 370-8, 2009 Sep.
Artigo
em Alemão
| MEDLINE | ID: mdl-19633854
20.
[Inflammatory myopathies]. / Inflammatorische Myopathien.
Z Rheumatol
; 68(8): 665-75; quiz 676-7, 2009 Oct.
Artigo
em Alemão
| MEDLINE | ID: mdl-19756663