New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder …
N Louhichi, C Triki, S Quijano-Roy, P Richard, S Makri… - neurogenetics, 2004 - Springer
The congenital muscular dystrophies (CMD) constitute a clinically and genetically
heterogeneous group of autosomal recessive myopathies. Patients show congenital hypotonia, …
heterogeneous group of autosomal recessive myopathies. Patients show congenital hypotonia, …
[HTML][HTML] Cupressus sempervirens Essential Oil: Exploring the Antibacterial Multitarget Mechanisms, Chemcomputational Toxicity Prediction, and Safety Assessment …
S Akermi, S Smaoui, K Elhadef, M Fourati, N Louhichi… - Molecules, 2022 - mdpi.com
Nowadays, increasing interest has recently been given to the exploration of new food
preservatives to avoid foodborne outbreaks or food spoilage. Likewise, new compounds that …
preservatives to avoid foodborne outbreaks or food spoilage. Likewise, new compounds that …
Mutational analysis of the mitochondrial 12S rRNA and tRNASer (UCN) genes in Tunisian patients with nonsyndromic hearing loss
…, A Tlili, S Masmoudi, N Louhichi… - Biochemical and …, 2006 - Elsevier
We explored the mitochondrial 12S rRNA and the tRNA Ser(UCN) genes in 100 Tunisian
families affected with NSHL and in 100 control individuals. We identified the mitochondrial …
families affected with NSHL and in 100 control individuals. We identified the mitochondrial …
Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect
N Louhichi, M Medhaffar, I HadjSalem… - Annals of …, 2010 - Springer
Inherited factor XIII (FXIII) deficiency is a rare bleeding disorder characterized by an umbilical
bleeding during the neonatal period, delayed soft tissue bruising, mucosal bleeding …
bleeding during the neonatal period, delayed soft tissue bruising, mucosal bleeding …
Nutritional and pharmacological potentials of the medicinal mushroom Ganoderma adspersum (Schulz.) Donk
In this study, the nuraceutical and the pharmacological properties of the crude extract of a
wild mushroom, Ganoderma adspersum (Schulz.) Donk collected from Tunisia, were …
wild mushroom, Ganoderma adspersum (Schulz.) Donk collected from Tunisia, were …
[HTML][HTML] Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene
N Louhichi, I Hadjsalem, S Marrakchi, F Trabelsi… - Molecular biology …, 2013 - Springer
Lamellar ichthyosis (LI, MIM# 242300) is a severe autosomal recessive genodermatosis
present at birth in the form of collodion membrane covering the neonate. Mutations in the TGM1 …
present at birth in the form of collodion membrane covering the neonate. Mutations in the TGM1 …
[HTML][HTML] Thyroid involvement in Chanarin-Dorfman syndrome in adults in the largest series of patients carrying the same founder mutation in ABHD5 gene
N Louhichi, E Bahloul, S Marrakchi, HB Othman… - Orphanet Journal of …, 2019 - Springer
Background Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an
accumulation of triacylglycerol in most organs. The aim of our study was to investigate various …
accumulation of triacylglycerol in most organs. The aim of our study was to investigate various …
Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C …
I Hadj Salem, F Kamoun, N Louhichi, M Trigui… - Molecular biology …, 2012 - Springer
Apoptosis of skeletal muscle fibers is a well-known event occurring in patients suffering from
muscular dystrophies. In this study, we hypothesized that functional polymorphisms in …
muscular dystrophies. In this study, we hypothesized that functional polymorphisms in …
LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy
O Siala, N Louhichi, C Triki, M Morinière… - Neuromuscular …, 2008 - Elsevier
An increasing number of genomic variations are no more regarded as harmless changes in
protein coding sequences or as genetic polymorphisms. Studying the impact of these …
protein coding sequences or as genetic polymorphisms. Studying the impact of these …
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian …
C Triki, N Louhichi, M Méziou, F Choyakh… - Neuromuscular …, 2003 - Elsevier
We report three Tunisian patients affected by congenital muscular dystrophy with mental
retardation and cerebellar cysts on cranial magnetic resonance imaging. The clinical features …
retardation and cerebellar cysts on cranial magnetic resonance imaging. The clinical features …