Detalhe da pesquisa
1.
[German version of the Neurophysiology of Pain Questionnaire : Translation, cross-cultural adaptation, reliability and validity]. / Die deutsche Version des Neurophysiology of Pain Questionnaire : Übersetzung, transkulturelle Adaptation, Reliabilität und Validität.
Schmerz
; 33(3): 244-252, 2019 Jun.
Artigo
em Alemão
| MEDLINE | ID: mdl-30941565
2.
CAD mutations and uridine-responsive epileptic encephalopathy.
Brain
; 140(2): 279-286, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007989
3.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
JAMA Pediatr
; 178(6): 540-547, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38587854
4.
5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.
J Neurol
; 271(5): 2787-2797, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38409538
5.
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
6.
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.
Neuropediatrics
; 43(3): 130-4, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22473288
7.
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
8.
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.
Mol Genet Metab
; 103(4): 358-61, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21596602
9.
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain
; 133(Pt 3): 655-70, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20129935
10.
Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.
Seizure
; 87: 25-29, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33677401
11.
Outcome of severe unilateral cerebellar hypoplasia.
Dev Med Child Neurol
; 52(8): 718-24, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19863638
12.
Effect of Additional Pain Neuroscience Education in Interdisciplinary Multimodal Pain Therapy on Current Pain. A Non-Randomized, Controlled Intervention Study.
J Pain Res
; 13: 2947-2957, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33235493
13.
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Orphanet J Rare Dis
; 10: 40, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25887401
14.
Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion.
Seizure
; 50: 118-120, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28651123
15.
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
J Neurol
; 259(3): 515-23, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21892769