Detalhe da pesquisa
1.
Systemic deletion of DMD exon 51 rescues clinically severe Duchenne muscular dystrophy in a pig model lacking DMD exon 52.
Proc Natl Acad Sci U S A
; 120(29): e2301250120, 2023 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37428903
2.
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Brain
; 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38366623
3.
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy.
Brain
; 146(4): 1388-1402, 2023 04 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36100962
4.
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
5.
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
Brain
; 146(9): 3800-3815, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36913258
6.
Inclusion body myositis-health-related quality of life and care situation during phases of the "patience journey" in Germany: results from a qualitative study.
Health Qual Life Outcomes
; 21(1): 111, 2023 Oct 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37817114
7.
[Molecular therapies: present and future in neuromuscular diseases]. / Molekulare Therapien: Gegenwart und Zukunft bei neuromuskulären Erkrankungen.
Nervenarzt
; 94(6): 473-487, 2023 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-37221259
8.
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale.
Ann Neurol
; 89(5): 967-978, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33576057
9.
Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study.
Muscle Nerve
; 65(5): 531-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179231
10.
[Adult Spinal Muscular Atrophy]. / Spinale Muskelatrophie im Erwachsenenalter.
Fortschr Neurol Psychiatr
; 90(9): 421-430, 2022 Sep.
Artigo
em Alemão
| MEDLINE | ID: mdl-36103897
11.
Genome editing for Duchenne muscular dystrophy: a glimpse of the future?
Gene Ther
; 28(9): 542-548, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531685
12.
[Expert recommendation: treatment of nonambulatory patients with Duchenne muscular dystrophy]. / Expertenempfehlung: Therapie nichtgehfähiger Patienten mit Muskeldystrophie Duchenne.
Nervenarzt
; 92(4): 359-366, 2021 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-33215271
13.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Am J Hum Genet
; 100(3): 523-536, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190456
14.
[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)]. / Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec AVXS-101 : Konsensuspapier der deutschen Vertretung der Gesellschaft für Neuropädiatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft für Muskelkranke (DGM) e.â¯V.
Nervenarzt
; 91(6): 518-529, 2020 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-32394004
15.
[Patient registries for rare diseases in Germany: concept paper of the NAMSE strategy group]. / Patientenregister für Seltene Erkrankungen in Deutschland: Konzeptpapier der Strategiegruppe "Register" des Nationalen Aktionsbündnisses für Menschen mit Seltenen Erkrankungen (NAMSE).
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 63(6): 761-770, 2020 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-32424556
16.
Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 1.
Brain
; 146(12): e111-e114, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348868
17.
[Treatment evaluation in patients with 5q-associated spinal muscular atrophy : Real-world experience]. / Therapieevaluation bei Patienten mit 5q-assoziierter spinaler Muskelatrophie : Erfahrungen aus der klinischen Praxis.
Nervenarzt
; 90(4): 343-351, 2019 Apr.
Artigo
em Alemão
| MEDLINE | ID: mdl-30617569
18.
[Spinal Muscular Atrophy - expert recommendations for the use of nusinersen in adult patients]. / Spinale Muskelatrophie Expertenempfehlungen zur Behandlung von erwachsenen Patienten mit Nusinersen.
Fortschr Neurol Psychiatr
; 87(12): 703-710, 2019 Dec.
Artigo
em Alemão
| MEDLINE | ID: mdl-31847032
19.
MRI in sarcoglycanopathies: a large international cohort study.
J Neurol Neurosurg Psychiatry
; 89(1): 72-77, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889091
20.
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
J Neurol Neurosurg Psychiatry
; 89(10): 1071-1081, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29735511