Detalhe da pesquisa
1.
Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.
Brain
; 146(2): 668-677, 2023 02 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35857854
2.
[Newborn screening program for spinal muscular atrophy]. / Neugeborenenscreeningprogramm für die spinale Muskelatrophie.
Nervenarzt
; 93(2): 135-141, 2022 Feb.
Artigo
em Alemão
| MEDLINE | ID: mdl-34652481
3.
Clinical and Magnetic Resonance Imaging Outcome Predictors in Pediatric Anti-N-Methyl-D-Aspartate Receptor Encephalitis.
Ann Neurol
; 88(1): 148-159, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32314416
4.
Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome).
Genet Med
; 21(10): 2355-2363, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30940925
5.
[Non-ambulatory patients with Duchenne muscular dystrophy : Recommendations for monitoring disease progression and course of treatment]. / Nichtgehfähige Patienten mit Duchenne-Muskeldystrophie : Empfehlungen zur Dokumentation des Krankheits- und Therapieverlaufs.
Nervenarzt
; 90(8): 817-823, 2019 Aug.
Artigo
em Alemão
| MEDLINE | ID: mdl-31270551
6.
Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial.
Lancet
; 385(9979): 1748-1757, 2015 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25907158
7.
Myocardial late gadolinium enhancement is associated with clinical presentation in Duchenne muscular dystrophy carriers.
J Cardiovasc Magn Reson
; 18(1): 61, 2016 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-27660108
8.
Intracranial hemorrhage and other symptoms in infants associated with human parechovirus in Vienna, Austria.
Eur J Pediatr
; 174(12): 1639-47, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26109012
9.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
JAMA Pediatr
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587854
10.
Long-term efficacy and safety of nusinersen in adults with 5q spinal muscular atrophy: a prospective European multinational observational study.
Lancet Reg Health Eur
; 39: 100862, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38361750
11.
Time to diagnosis of Duchenne muscular dystrophy in Austria and Germany.
Sci Rep
; 13(1): 179, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36604563
12.
The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.
J Neurol
; 270(2): 909-916, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308527
13.
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
J Neuromuscul Dis
; 10(1): 29-40, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36565133
14.
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Brain
; 134(Pt 1): 143-56, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20952379
15.
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Brain
; 134(Pt 9): 2664-76, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21840889
16.
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
Lancet Child Adolesc Health
; 6(1): 17-27, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34756190
17.
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.
Orphanet J Rare Dis
; 17(1): 384, 2022 10 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36274155
18.
Treatment with Nusinersen - Challenges Regarding the Indication for Children with SMA Type 1.
J Neuromuscul Dis
; 7(1): 41-46, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31744015
19.
SMArtCARE - A platform to collect real-life outcome data of patients with spinal muscular atrophy.
Orphanet J Rare Dis
; 14(1): 18, 2019 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30665421
20.
Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA Netw Open
; 2(10): e1914171, 2019 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31664444