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.
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Brain
; 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38527963
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients.
Neuropediatrics
; 51(5): 349-353, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32818969
9.
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
10.
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
11.
Relationship between ABCB1 3435TT genotype and antiepileptic drugs resistance in Epilepsy: updated systematic review and meta-analysis.
BMC Neurol
; 17(1): 32, 2017 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202008
12.
Manic syndrome in mitochondrial membrane protein-associated neurodegeneration: A case report.
Psychiatry Clin Neurosci
; 76(10): 533-534, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808982
13.
Status dystonicus in childhood.
Tunis Med
; 93(12): 756-9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27249384
14.
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
15.
Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.
World J Clin Cases
; 12(3): 503-516, 2024 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38322471
16.
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
17.
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
18.
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
19.
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
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