Detalhe da pesquisa
1.
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
2.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain
; 146(12): 4880-4890, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37769650
3.
[Myositis: from diagnosis to treatment]. / Myositis: von der Diagnose zur Therapie.
Nervenarzt
; 94(6): 510-518, 2023 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-37222759
4.
Neuromuscular conditions and the impact of cystine-depleting therapy in infantile nephropathic cystinosis: A cross-sectional analysis of 55 patients.
J Inherit Metab Dis
; 45(2): 183-191, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34888877
5.
Mechanography in children: pediatric references in postural control.
J Musculoskelet Neuronal Interact
; 22(4): 431-454, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36458382
6.
[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
7.
Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study.
Muscle Nerve
; 63(5): 668-677, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33501671
8.
Jumping Mechanography is a Suitable Complementary Method to Assess Motor Function in Ambulatory Boys with Duchenne Muscular Dystrophy.
Neuropediatrics
; 52(6): 455-461, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33706402
9.
Is Exercise-Induced Fatigue a Problem in Children with Duchenne Muscular Dystrophy?
Neuropediatrics
; 51(5): 342-348, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369835
10.
Diagnosis and Care of Infants and Children with Pompe Disease.
Klin Padiatr
; 2020 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32069498
11.
[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
12.
[Molecular therapies in childhood neuromuscular disorders-definite hope versus unknown pitfalls]. / Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter Große Hoffnungen und unbekannte Risiken.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 63(7): 891-897, 2020 Jul.
Artigo
em Alemão
| MEDLINE | ID: mdl-32542436
13.
[Analysis of motor development within the first year of life: 3-D motion tracking without markers for early detection of developmental disorders]. / Analyse der Spontanmotorik im 1. Lebensjahr: Markerlose 3-D-Bewegungserfassung zur Früherkennung von Entwicklungsstörungen.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 63(7): 881-890, 2020 Jul.
Artigo
em Alemão
| MEDLINE | ID: mdl-32572501
14.
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
Am J Hum Genet
; 99(4): 894-902, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616477
15.
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Hum Genet
; 137(11-12): 911-919, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30460542
16.
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Neuropediatrics
; 49(5): 330-338, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29940663
17.
Overlap phenotype between CMT1A and hereditary neuropathy with liability to pressure palsies caused by the novel small in-frame deletion c.407_418del12 in PMP22 gene.
Neuropediatrics
; 46(1): 44-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25265422
18.
Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene.
Neuropediatrics
; 46(4): 282-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26110311
19.
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening.
J Neuromuscul Dis
; 11(1): 143-151, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37927272
20.
Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Lancet Neurol
; 23(4): 393-403, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508835