Detalhe da pesquisa
1.
Hypoventilation syndrome in neuromuscular disorders.
Curr Opin Neurol
; 34(5): 686-696, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34231549
2.
[Home infusion therapy for Pompe disease: Recommendations for German-speaking countries]. / Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum.
Fortschr Neurol Psychiatr
; 2021 Apr 27.
Artigo
em Alemão
| MEDLINE | ID: mdl-33906241
3.
[Home infusion therapy for Pompe disease: Recommendations for German-speaking countries]. / Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum.
Fortschr Neurol Psychiatr
; 89(12): 630-636, 2021 Dec.
Artigo
em Alemão
| MEDLINE | ID: mdl-33561874
4.
Utility and Results from a Patient-Reported Online Survey in Myotonic Dystrophies Types 1 and 2.
Eur Neurol
; 83(5): 523-533, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33120389
5.
[Myasthenia gravis: current status of antibody diagnostics and aspects on refractory myasthenia gravis]. / Myasthenia gravis: aktuelle Antikörperdiagnostik und Aspekte zum therapierefraktären Verlauf.
Fortschr Neurol Psychiatr
; 86(9): 551-558, 2018 09.
Artigo
em Alemão
| MEDLINE | ID: mdl-30248688
6.
[Anti-IgLON5 syndrome - what is our current understanding?] / Das Anti-IgLON5-Syndrom Was ist unser aktueller Wissensstand?
Fortschr Neurol Psychiatr
; 86(9): 559-565, 2018 09.
Artigo
em Alemão
| MEDLINE | ID: mdl-30257262
7.
Respiratory involvement in neuromuscular disorders.
Curr Opin Neurol
; 30(5): 529-537, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28562381
8.
Online Surveys Are a Useful Additional Tool in Combination with Clinical Assessments to Easily Assess Demographic and Clinical Data.
Eur Neurol
; 85(1): 74-76, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34749358
9.
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.
Mol Genet Metab
; 119(1-2): 115-23, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27473031
10.
Long-term whole-body vibration training in two late-onset Pompe disease patients.
Neurol Sci
; 37(8): 1357-60, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27193587
11.
Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.
Int J Mol Sci
; 17(10)2016 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27763517
12.
Nociceptive pain in adult patients with 5q-spinal muscular atrophy type 3: a cross-sectional clinical study.
J Neurol
; 270(1): 250-261, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36036285
13.
Suitability of the Respicheck questionnaire and Epworth sleepiness scale for therapy monitoring in myotonic dystrophy type 1.
Neuromuscul Disord
; 33(10): 754-761, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37690855
14.
Evaluation of myotonometry for myotonia, muscle stiffness and elasticity in neuromuscular disorders.
J Neurol
; 270(11): 5398-5407, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37460851
15.
Prediction of respiratory impairment in myotonic dystrophies using the 'Respiratory involvement symptom checklist' (Respicheck).
Neuromuscul Disord
; 33(7): 610-618, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37399783
16.
Toward deconstructing the phenotype of late-onset Pompe disease.
Am J Med Genet C Semin Med Genet
; 160C(1): 80-8, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22253010
17.
The impact of antibodies in late-onset Pompe disease: a case series and literature review.
Mol Genet Metab
; 106(3): 301-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22613277
18.
The impact of interrupting enzyme replacement therapy in late-onset Pompe disease.
J Neurol
; 268(8): 2943-2950, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33625582
19.
Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1.
Neurol Genet
; 7(2): e572, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33884298
20.
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa.
J Neurol
; 268(7): 2482-2492, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33543425