Detalhe da pesquisa
1.
Interactions of perinatal depression versus anxiety and infants' early temperament trajectories.
Child Dev
; 95(3): 721-733, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38010823
2.
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
Am J Hum Genet
; 107(2): 364-373, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32707086
3.
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.
BMC Neurol
; 23(1): 305, 2023 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592248
4.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
J Med Genet
; 59(9): 878-887, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34656997
5.
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.
Mol Genet Metab
; 137(3): 273-282, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36240581
6.
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
7.
Defining the phenotypical spectrum associated with variants in TUBB2A.
J Med Genet
; 58(1): 33-40, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571897
8.
The Mutation Matters: CSF Profiles of GCase, Sphingolipids, α-Synuclein in PDGBA.
Mov Disord
; 36(5): 1216-1228, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33547828
9.
Spasmodic Abdominal Pain and Other Gastrointestinal Symptoms in Pontocerebellar Hypoplasia Type 2.
Neuropediatrics
; 52(6): 495-498, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255333
10.
[What role do children in school and kindergarten settings play in transmitting SARS-CoV-2? An evidence-based perspective]. / Welche Rolle spielen Kinder in Schulen und Kindertagesstätten bei der Übertragung von SARS-CoV-2? Eine evidenzbasierte Perspektive.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 64(12): 1492-1499, 2021 Dec.
Artigo
em Alemão
| MEDLINE | ID: mdl-34792612
11.
POLR3A variants with striatal involvement and extrapyramidal movement disorder.
Neurogenetics
; 21(2): 121-133, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31940116
12.
Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial.
Mol Genet Metab
; 131(1-2): 235-244, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792226
13.
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
Brain
; 142(6): 1561-1572, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31135052
14.
Severity of Cerebral Palsy-The Impact of Associated Impairments.
Neuropediatrics
; 51(2): 120-128, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32120428
15.
The Origin of the Cerebral Palsies: Contribution of Population-Based Neuroimaging Data.
Neuropediatrics
; 51(2): 113-119, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32120429
16.
Effects of Liberal vs Restrictive Transfusion Thresholds on Survival and Neurocognitive Outcomes in Extremely Low-Birth-Weight Infants: The ETTNO Randomized Clinical Trial.
JAMA
; 324(6): 560-570, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32780138
17.
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.
J Med Genet
; 55(1): 39-47, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28916646
18.
Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282.
Mol Genet Metab
; 138(3): 107372, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739646
19.
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Blood
; 127(8): 997-1006, 2016 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26744459
20.
Impact of Hippotherapy on Gross Motor Function and Quality of Life in Children with Bilateral Cerebral Palsy: A Randomized Open-Label Crossover Study.
Neuropediatrics
; 49(3): 185-192, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29486504