Search details
1.
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Ann Neurol
; 89(2): 304-314, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33180985
2.
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Genet Med
; 22(9): 1489-1497, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32461669
3.
Severe central and peripheral paraneoplastic demyelination associated with tumours of the ovaries.
Childs Nerv Syst
; 31(9): 1601-6, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-25966874
4.
Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.
Childs Nerv Syst
; 30(12): 2037-42, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25227171
5.
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.
Nat Commun
; 14(1): 7664, 2023 Nov 23.
Article
in English
| MEDLINE | ID: mdl-37996417
6.
Antiepileptic Effect and Safety Profile of Rapamycin in Pediatric Patients With Tuberous Sclerosis Complex.
Front Neurol
; 13: 704978, 2022.
Article
in English
| MEDLINE | ID: mdl-35572924
7.
mTOR Inhibitor Treatment in Patients with Tuberous Sclerosis Complex Is Associated with Specific Changes in microRNA Serum Profile.
J Clin Med
; 11(12)2022 Jun 13.
Article
in English
| MEDLINE | ID: mdl-35743464
8.
Epilepsy and Language Development in 8-36-Month-Old Toddlers with Tuberous Sclerosis Complex.
J Clin Med
; 11(15)2022 Aug 04.
Article
in English
| MEDLINE | ID: mdl-35956179
9.
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex.
Biomedicines
; 10(8)2022 Jul 29.
Article
in English
| MEDLINE | ID: mdl-36009385
10.
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex.
Eur J Med Genet
; 64(10): 104309, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34403804
11.
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?
Ann Clin Transl Neurol
; 7(8): 1371-1381, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32705817
12.
Dysregulation of the MMP/TIMP Proteolytic System in Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex: Modulation of MMP by MicroRNA-320d In Vitro.
J Neuropathol Exp Neurol
; 79(7): 777-790, 2020 07 01.
Article
in English
| MEDLINE | ID: mdl-32472129
13.
Preventive Antiepileptic Treatment in Tuberous Sclerosis Complex: A Long-Term, Prospective Trial.
Pediatr Neurol
; 101: 18-25, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31481332
14.
Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study.
J Clin Med
; 8(6)2019 Jun 03.
Article
in English
| MEDLINE | ID: mdl-31163675
15.
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?
Orphanet J Rare Dis
; 13(1): 25, 2018 01 29.
Article
in English
| MEDLINE | ID: mdl-29378663
16.
Liver Angiomyolipomas in Tuberous Sclerosis Complex-Their Incidence and Course.
Pediatr Neurol
; 78: 20-26, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29249553
17.
Tuberous sclerosis complex neuropathology requires glutamate-cysteine ligase.
Acta Neuropathol Commun
; 3: 48, 2015 Jul 30.
Article
in English
| MEDLINE | ID: mdl-26220190
18.
Epilepsy in newborns with tuberous sclerosis complex.
Eur J Paediatr Neurol
; 18(6): 714-21, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25030328
19.
Surgical treatment of subependymal giant cell astrocytoma in tuberous sclerosis complex patients.
Pediatr Neurol
; 50(4): 307-12, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24507694
20.
Possible prevention of tuberous sclerosis complex lesions.
Pediatrics
; 132(1): e239-42, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23733802