Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-29697822
2.
Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.
Muscle Nerve
; 55(1): 46-50, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27178005
3.
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency.
Mov Disord
; 28(8): 1058-63, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23389938
4.
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
Inglês
| MEDLINE | ID: mdl-34229737
5.
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry.
Front Neurol
; 12: 697467, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34566842
6.
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
Inglês
| MEDLINE | ID: mdl-33833726
7.
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
Mov Disord
; 25(8): 1086-90, 2010 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20198643
8.
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.
J Neuromuscul Dis
; 7(3): 247-256, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32417790
9.
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project.
J Neurodev Disord
; 12(1): 24, 2020 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32873244
10.
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study.
Front Neurol
; 11: 904, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32982929
11.
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
Inglês
| MEDLINE | ID: mdl-32733359
12.
Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas.
Front Neurol
; 11: 972, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33041968
13.
Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry.
Front Neurol
; 10: 1144, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31708865
14.
The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases.
Front Neurol
; 10: 1182, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31798515
15.
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.
Front Neurol
; 10: 705, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31333563
16.
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.
Epilepsia Open
; 4(1): 73-84, 2019 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-30868117
17.
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.
Front Neurol
; 10: 821, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31428037
18.
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.
Orphanet J Rare Dis
; 13(1): 157, 2018 09 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30201051
19.
TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients.
Orphanet J Rare Dis
; 12(1): 2, 2017 01 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28057044
20.
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
J Neurol
; 263(8): 1604-11, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-27260292