Detalhe da pesquisa
1.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Hum Mol Genet
; 32(4): 580-594, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067010
2.
MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy.
Brain
; 146(3): 858-864, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36417180
3.
Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis.
Mol Genet Metab
; 138(2): 106983, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709536
4.
Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.
Clin Genet
; 102(2): 157-160, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796208
5.
Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.
Neuropediatrics
; 52(4): 302-309, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34192786
6.
Acute Movement Disorders in Childhood: A Cohort Study and Review of the Literature.
Pediatr Emerg Care
; 37(11): e719-e725, 2021 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34469400
7.
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.
Am J Hum Genet
; 99(6): 1229-1244, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27817865
8.
Muscle-Specific Kinase Autoimmune Myasthenia Gravis: Report of a Pediatric Case and Literature Review.
Neuropediatrics
; 50(2): 116-121, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30577044
9.
Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.
Neuropediatrics
; 49(5): 339-341, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30011403
10.
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
J Med Genet
; 53(9): 608-15, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27208211
11.
X-linked Adrenoleukodystrophy, The Tunisian Experience.
Clin Lab
; 61(10): 1531-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26642716
12.
Status dystonicus in childhood.
Tunis Med
; 93(12): 756-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27249384
13.
Immunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging.
Cells
; 13(5)2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38474366
14.
Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).
Arch Pediatr
; 31(2): 124-128, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38262859
15.
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Front Genet
; 15: 1384094, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38711914
16.
3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
Neuropediatrics
; 44(5): 281-5, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23564319
17.
Pediatric Neurotuberculosis: A cases series and review of the literature.
Eur J Paediatr Neurol
; 43: 6-11, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36739787
18.
Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.
Front Genet
; 14: 1259826, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38283147
19.
Guanidinoacetate methyltransferase (GAMT) deficiency in two Tunisian siblings: clinical and biochemical features.
Clin Lab
; 58(5-6): 427-32, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22783571
20.
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.
Orphanet J Rare Dis
; 17(1): 121, 2022 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35248096