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.
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
3.
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
4.
ARF1-related disorder: phenotypic and molecular spectrum.
J Med Genet
; 60(10): 999-1005, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185208
5.
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Brain
; 145(2): 644-654, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34590685
6.
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
7.
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy.
Brain
; 144(2): 411-419, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33313762
8.
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
9.
[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
10.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Brain
; 143(10): 2929-2944, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32979048
11.
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
12.
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
13.
[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
14.
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
Am J Hum Genet
; 99(6): 1377-1387, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27839873
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.
Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology.
Acta Neurol Scand
; 138(6): 475-481, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30259965
17.
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum.
Neuropediatrics
; 49(5): 330-338, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29940663
18.
Symptom patterns in childhood arterial ischemic stroke: Analysis of a population-based study in Germany.
Klin Padiatr
; 230(6): 319-325, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304740
19.
International Paediatric Mitochondrial Disease Scale.
J Inherit Metab Dis
; 39(5): 705-712, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27277220
20.
Do patients clinically diagnosed with vascular malformations of 1 lower extremity benefit from imaging of both legs from pelvis to toe? A prospective MRI study.
J Am Acad Dermatol
; 82(4): 981-984, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31279030