C. Triki

发表

A novel de novo splicing mutation c.1444‐2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome

R. Touraine, H. Kamoun, L. Keskes-Ammar, 2019, IUBMB life.

Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene

H. Turki, N. Louhichi, F. Fakhfakh, 2019, Orphanet Journal of Rare Diseases.

Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.

N. Louhichi, F. Fakhfakh, I. Hadj Salem, 2011, Bioscience reports.

CAPN3 mRNA processing alteration caused by splicing mutation associated with novel genomic rearrangement of Alu elements

I. H. Salem, F. Fakhfakh, N. Mezghani, 2011, Journal of Human Genetics.

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients

C. Mhiri, N. Louhichi, F. Fakhfakh, 2003, Neuromuscular Disorders.

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.

Ahmed Rebai, P. Guicheney, P. Richard, 2007, Genetic testing.

Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.

A. Saâd, Hanene Hannachi, H. Elghezal, 2007, European journal of medical genetics.

Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome

A. Gargouri, F. Fakhfakh, E. Ellouze, 2017, Journal of child neurology.

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

N. Romero, B. Estournet, S. Quijano-roy, 2004, Neurogenetics.

Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state.

F. Fakhfakh, C. Triki, Boudour Khabou, 2017, Clinica chimica acta; international journal of clinical chemistry.

Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD

F. Fakhfakh, C. Triki, Boudour Khabou, 2018, Journal of Molecular Neuroscience.

Molecular-Clinical Correlation in a Family With a Novel Heteroplasmic Leigh Syndrome Missense Mutation in the Mitochondrial Cytochrome c Oxidase III Gene

F. Kammoun, F. Fakhfakh, I. Chamkha, 2011, Journal of child neurology.

First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome

F. Kammoun, F. Fakhfakh, C. Triki, 2019, International Journal of Developmental Neuroscience.

New mutation c.374C>T and a putative disease‐associated haplotype within SCN1B gene in Tunisian families with febrile seizures

Ahmed Rebai, I. H. Salem, F. Kammoun, 2011, European journal of neurology.

The First Genome-Wide Scan in a Tunisian Family With Generalized Epilepsy With Febrile Seizure Plus (GEFS+)

Ahmed Rebai, I. H. Salem, N. Louhichi, 2010, Journal of child neurology.

Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus

Ahmed Rebai, F. Kammoun, F. Fakhfakh, 2009, European journal of neurology.

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy

N. Louhichi, F. Fakhfakh, F. Baklouti, 2008, Neuromuscular Disorders.

8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects

A. Souissi, Ikhlas Ben Ayed, S. Masmoudi, 2021, Molecular genetics & genomic medicine.

Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients

N. Louhichi, F. Fakhfakh, I. Hadj Salem, 2012, Molecular Biology Reports.

A novel TBX1 missense mutation in patients with syndromic congenital heart defects.

H. Kamoun, D. Abid, S. Kamoun, 2018, Biochemical and biophysical research communications.

A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.

F. Fakhfakh, Z. Abdelkafi, C. Triki, 2009, Genetic testing and molecular biomarkers.

A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG–Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients

F. Fakhfakh, C. Triki, N. Fendri-Kriaa, 2015, Journal of child neurology.

Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome

F. Fakhfakh, C. Triki, H. Kammoun, 2017, Acta Neurologica Belgica.

A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.

F. Fakhfakh, C. Kifagi, E. Ellouze, 2011, Biochemical and biophysical research communications.

Mutational Analysis of the MECP2 Gene in Tunisian Patients With Rett Syndrome: A Novel Double Mutation

N. Louhichi, F. Fakhfakh, R. Zemni, 2010, Journal of child neurology.

Mutation Gene in Tunisian Patients With Rett Syndrome : A Novel Double MECP 2 Mutational Analysis of the

N. Louhichi, F. Fakhfakh, R. Zemni, 2010 .

Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients

N. Louhichi, F. Fakhfakh, I. Hadj Salem, 2012, Molecular Biology Reports.

SRD5A3‐CDG: 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition

A. Alimi, W. Ouarda, N. Kharrat, 2021, American journal of medical genetics. Part A.

A De Novo Mutation in the Adenosine Triphosphatase (ATPase) 8 Gene in a Patient With Mitochondrial Disorder

F. Kammoun, F. Fakhfakh, I. Chamkha, 2010, Journal of child neurology.

A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.

Ahmed Rebai, F. Kammoun, F. Fakhfakh, 2011, Biochemical and biophysical research communications.

A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

L. Villard, F. Kammoun, F. Fakhfakh, 2021, Orphanet Journal of Rare Diseases.

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.

A. Tlili, S. Masmoudi, F. Fakhfakh, 2007, Biochemical and Biophysical Research Communications - BBRC.

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation

F. Kammoun, F. Fakhfakh, C. Triki, 2020, Acta Neurologica Belgica.

A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation

F. Kammoun, F. Fakhfakh, C. Triki, 2020, Acta Neurologica Belgica.

Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.

P. Guicheney, P. Richard, N. Louhichi, 2006, Archives de l'Institut Pasteur de Tunis.

Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene.

A. Tlili, S. Masmoudi, N. Louhichi, 2010, Bioscience reports.

A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation

F. Fakhfakh, C. Triki, L. Ammar-keskes, 2018, International Journal of Developmental Neuroscience.

Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

N. Kaabechi, E. Ellouz, Ghada Ben Salah, 2016, Clinica chimica acta; international journal of clinical chemistry.

Mutation in the β‐tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism

F. Kammoun, F. Fakhfakh, C. Triki, 2023, International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience.

A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity

A. Tlili, F. Fakhfakh, C. Triki, 2023, Journal of Molecular Neuroscience.

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.

F. Kammoun, F. Fakhfakh, M. Hachicha, 2009, Molecular genetics and metabolism.

Development, validity and reliability of the systematic screening for handwriting difficulties tool 

B. Smits-Engelsman, W. Moalla, F. Kammoun, 2024, F1000Research.

Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation.

N. Kaabechi, E. Ellouz, Ghada Ben Salah, 2016, Clinica chimica acta; international journal of clinical chemistry.