Detalhe da pesquisa
1.
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
2.
Long-Term Follow-Up of Pediatric Patients with Dyskinetic Cerebral Palsy and Deep Brain Stimulation.
Mov Disord
; 38(9): 1736-1742, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37358761
3.
Treatment of seizures in the neonate: Guidelines and consensus-based recommendations-Special report from the ILAE Task Force on Neonatal Seizures.
Epilepsia
; 64(10): 2550-2570, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37655702
4.
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
J Inherit Metab Dis
; 46(1): 129-142, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36225138
5.
Cerebral microstructural changes in children suffering from hemolytic uremic syndrome.
Eur J Pediatr
; 182(10): 4663-4672, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37558834
6.
Anti-seizure medications for neonates with seizures.
Cochrane Database Syst Rev
; 10: CD014967, 2023 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873971
7.
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Mol Genet Metab
; 135(4): 350-356, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279367
8.
Quality of Life After Deep Brain Stimulation of Pediatric Patients with Dyskinetic Cerebral Palsy: A Prospective, Single-Arm, Multicenter Study with a Subsequent Randomized Double-Blind Crossover (STIM-CP).
Mov Disord
; 37(4): 799-811, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34967053
9.
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Neuropediatrics
; 53(1): 39-45, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34852371
10.
DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1.
Childs Nerv Syst
; 38(9): 1821-1824, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35725943
11.
[Thrombotic Microangiopathy (TMA) after Gene Replacemant Therapy (GRT) due to Spinal Muscular Atrophy: Case Summary and Recommendations for Treatment]. / Thrombotische Mikroangiopathie (TMA) nach Genersatztherapie (GRT) bei spinaler Muskelatrophie: Ein Fallbericht und Therapieoption.
Klin Padiatr
; 234(1): 42-47, 2022 Jan.
Artigo
em Alemão
| MEDLINE | ID: mdl-34388834
12.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Am J Hum Genet
; 103(5): 817-825, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30401461
13.
Autoantibody-associated psychiatric syndromes in children: link to adult psychiatry.
J Neural Transm (Vienna)
; 128(6): 735-747, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34057596
14.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
15.
Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.
Neuropediatrics
; 52(4): 274-283, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33791999
16.
Pseudotumor cerebri syndrome in a child with Alagille syndrome: intracranial pressure dynamics and treatment outcome after ventriculoperitoneal shunting.
Childs Nerv Syst
; 37(9): 2899-2904, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33555437
17.
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
Genet Med
; 22(10): 1589-1597, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820246
18.
Stability of 0.5% Glucose-Containing Balanced Electrolyte Solutions for Patients on Ketogenic Diets: A Laboratory Study.
Neuropediatrics
; 51(6): 397-400, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32842160
19.
Systematic review of the screening, diagnosis, and management of ADHD in children with epilepsy. Consensus paper of the Task Force on Comorbidities of the ILAE Pediatric Commission.
Epilepsia
; 59(10): 1867-1880, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178479
20.
Why monitor the neonatal brain-that is the important question.
Pediatr Res
; 93(1): 19-21, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35365761