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Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing

Frontiers in genetics, 2024-01, Vol.14 (5), p.1259826

2024

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Les portes d’entrée neurologiques dans les maladies métaboliques

Revue neurologique, 2023-04, Vol.179, p.S188-S188

Ichraf, Kraoua

2023

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Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.121-121, Article 121

2022

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Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families

Molecular genetics & genomic medicine, 2024-10, Vol.12 (10), p.e70007-n/a

2024

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Autoimmune Encephalitis in Tunisia: Report of a Pediatric Cohort

Journal of Immunology Research, 2021, Vol.2021, p.6666117-7

2021

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Immunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging

Cells (Basel, Switzerland), 2024-02, Vol.13 (5), p.402

2024

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Letter to the editor: “A case of Guillain-Barré syndrome with meningeal irritation”

Brain & development (Tokyo. 1979), 2017-10, Vol.39 (9), p.815-815

2017

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Methylmalonic acidemia and hyperglycemia: An unusual association

Brain & development (Tokyo. 1979), 2012-02, Vol.34 (2), p.113-114

2012

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Postencephalitic parkinsonism and selective involvement of substantia nigra in childhood

Brain & development (Tokyo. 1979), 2015-01, Vol.37 (1), p.153-157

2015

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Childhood opsoclonus–myoclonus syndrome: A case series from Tunisia

Brain & development (Tokyo. 1979), 2017-10, Vol.39 (9), p.751-755

2017

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Rasmussen’s Encephalitis: A Report of a Tunisian Pediatric Case and Literature Review

Case reports in neurological medicine, 2020-06, Vol.2020 (2020), p.1-5

2020

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Reply to Dr. Suresh Kumar

Brain & development (Tokyo. 1979), 2013-02, Vol.35 (2), p.186-186

2013

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Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia

Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e914-n/a

2019

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Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child

Brain & development (Tokyo. 1979), 2014-11, Vol.36 (10), p.921-923

2014

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A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients

Brain & development (Tokyo. 1979), 2011-02, Vol.33 (2), p.131-139

2011

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Parkinsonism in Gaucher's disease type 1: Ten new cases and a review of the literature

Movement disorders, 2009-07, Vol.24 (10), p.1524-1530

2009

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Acute Cerebellitis in Children: A Tunisian Case Series

Neurology, 2024-10, Vol.103 (7_Supplement_1)

2024

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Clinical and genetic spectrum of Ataxia Telangiectasia Tunisian patients: Bioinformatic analysis unveil mechanisms of ATM variants pathogenicity

International journal of biological macromolecules, 2024-10, Vol.278 (Pt 1), p.134444, Article 134444

2024

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Genetic characterization of hypomyelinating leukodystrophies in the Tunisian cohort

Journal of the neurological sciences, 2021-10, Vol.429, p.118263, Article 118263

2021

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Pediatric MOGAD: Tunisian case series

Journal of the neurological sciences, 2023-12, Vol.455, p.121256, Article 121256

2023

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Subacute sclerosing panencephalitis: Clinical and paraclinical study of Tunisian pediatric cases

Journal of the neurological sciences, 2023-12, Vol.455, p.121255, Article 121255

2023

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MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy

Brain (London, England : 1878), 2023-03, Vol.146 (3), p.858-864

2023

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Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing

Les portes d’entrée neurologiques dans les maladies métaboliques

Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian Families

Autoimmune Encephalitis in Tunisia: Report of a Pediatric Cohort

Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

Immunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging

Letter to the editor: “A case of Guillain-Barré syndrome with meningeal irritation”

Methylmalonic acidemia and hyperglycemia: An unusual association

Postencephalitic parkinsonism and selective involvement of substantia nigra in childhood

Childhood opsoclonus–myoclonus syndrome: A case series from Tunisia

Rasmussen’s Encephalitis: A Report of a Tunisian Pediatric Case and Literature Review

Reply to Dr. Suresh Kumar

Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia

Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients

Parkinsonism in Gaucher's disease type 1: Ten new cases and a review of the literature

Acute Cerebellitis in Children: A Tunisian Case Series

Clinical and genetic spectrum of Ataxia Telangiectasia Tunisian patients: Bioinformatic analysis unveil mechanisms of ATM variants pathogenicity

Genetic characterization of hypomyelinating leukodystrophies in the Tunisian cohort

Pediatric MOGAD: Tunisian case series

Subacute sclerosing panencephalitis: Clinical and paraclinical study of Tunisian pediatric cases

MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy

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