Detalhe da pesquisa
1.
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study.
J Inherit Metab Dis
; 45(2): 248-263, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34873726
2.
Evidence-based anti-seizure monotherapy in newly diagnosed epilepsy: A new approach.
Acta Neurol Scand
; 142(4): 323-332, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627842
3.
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.
Nephrol Dial Transplant
; 34(3): 502-508, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29697822
4.
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.
J Inherit Metab Dis
; 40(2): 237-245, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28101805
5.
Copy number variations in children with brain malformations and refractory epilepsy.
Am J Med Genet A
; 167A(3): 512-23, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25691404
6.
The ketogenic diet compensates for AGC1 deficiency and improves myelination.
Epilepsia
; 56(11): e176-81, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26401995
7.
Zonisamide: pharmacokinetics, efficacy, and adverse events in children with epilepsy.
Neuropediatrics
; 45(6): 362-70, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25133701
8.
Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort.
Brain Commun
; 5(4): fcad213, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37614989
9.
Rufinamide in children with refractory epilepsy: pharmacokinetics, efficacy, and safety.
Neuropediatrics
; 43(5): 264-70, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22941776
10.
Higher levels of Bifidobacteria and tumor necrosis factor in children with drug-resistant epilepsy are associated with anti-seizure response to the ketogenic diet.
EBioMedicine
; 80: 104061, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35598439
11.
Circulating proprotein convertase subtilisin kexin type 9 has a diurnal rhythm synchronous with cholesterol synthesis and is reduced by fasting in humans.
Arterioscler Thromb Vasc Biol
; 30(12): 2666-72, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20884874
12.
Altered cytokine levels in cerebrospinal fluid following ketogenic diet of children with refractory epilepsy.
Epilepsy Res
; 177: 106775, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34597959
13.
Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.
Eur J Paediatr Neurol
; 30: 71-81, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33453472
14.
Resolving the biological paradox of aneurysm formation in children with tuberous sclerosis complex.
JVS Vasc Sci
; 2: 72-78, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34617060
15.
Differential ketogenic diet-induced shift in CSF lipid/carbohydrate metabolome of pediatric epilepsy patients with optimal vs. no anticonvulsant response: a pilot study.
Nutr Metab (Lond)
; 18(1): 23, 2021 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33648550
16.
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA).
Orphanet J Rare Dis
; 16(1): 301, 2021 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34229737
17.
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry.
Front Neurol
; 12: 697467, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34566842
18.
TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex.
Front Neurol
; 12: 630378, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33833726
19.
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study.
Front Neurol
; 11: 904, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32982929
20.
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype.
Front Neurol
; 11: 603, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32733359