Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders
Hammer, M. B., Eleuch-Fayache, G., Gibbs, J. R., Arepalli, S. K., Chong, S. B., Sassi, C., Bouhlal, Y., Hentati, F., Amouri, R., Singleton, A. B.
Published in European journal of neurology (01.03.2013)
Published in European journal of neurology (01.03.2013)
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Journal Article
Autonomic dysfunction in Tunisian patients with Parkinson's disease
Lakhdar, I, Ben Sassi, S, Nabli, F, Amouri, R, Zouari, M, Hentati, F
Published in Journal of the neurological sciences (15.10.2013)
Published in Journal of the neurological sciences (15.10.2013)
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Journal Article
PINK1 mutations and parkinsonism
Ishihara-Paul, L, Hulihan, M M, Kachergus, J, Upmanyu, R, Warren, L, Amouri, R, Elango, R, Prinjha, R K, Soto, A, Kefi, M, Zouari, M, Sassi, S B, Yahmed, S B, El Euch-Fayeche, G, Matthews, P M, Middleton, L T, Gibson, R A, Hentati, F, Farrer, M J
Published in Neurology (16.09.2008)
Published in Neurology (16.09.2008)
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Journal Article
l-2-Hydroxyglutaric aciduria: Clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability
Larnaout, A., Amouri, R., Kefi, M., Hentati, F.
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
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Journal Article
Aprataxin gene mutations in Tunisian families
Amouri, R, Moreira, M-C, Zouari, M, El Euch, G, Barhoumi, C, Kefi, M, Belal, S, Koenig, M, Hentati, F
Published in Neurology (14.09.2004)
Published in Neurology (14.09.2004)
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Journal Article
Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
H’mida-Ben Brahim, D., M’zahem, A., Assoum, M., Bouhlal, Y., Fattori, F., Anheim, M., Ali-Pacha, L., Ferrat, F., Chaouch, M., Lagier-Tourenne, C., Drouot, N., Thibaut, C., Benhassine, T., Sifi, Y., Stoppa-Lyonnet, D., N’Guyen, K., Poujet, J., Hamri, A., Hentati, F., Amouri, R., Santorelli, F. M., Tazir, M., Koenig, M.
Published in Journal of neurology (2011)
Published in Journal of neurology (2011)
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Journal Article
Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes
Fendri, K., Kefi, M., Hentati, F., Amouri, R.
Published in Neuromuscular disorders : NMD (01.05.2006)
Published in Neuromuscular disorders : NMD (01.05.2006)
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Journal Article
Osteoma of the calvaria in l-2-hydroxyglutaric aciduria
Larnaout, A, Amouri, R, Neji, S, Zouari, M, Kaabachi, N, Hentati, F
Published in Journal of inherited metabolic disease (01.11.2007)
Published in Journal of inherited metabolic disease (01.11.2007)
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Journal Article
Phenotype and sarcoglycan expression in Tunisian LGMD 2C patients sharing the same del521-T mutation
Kefi, M, Amouri, R, Driss, A, Ben Hamida, C, Ben Hamida a, M, Kunkel, L.M, Hentati, F
Published in Neuromuscular disorders : NMD (01.12.2003)
Published in Neuromuscular disorders : NMD (01.12.2003)
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Journal Article
Linkage to chromosome 13q11-12 of an autosomal recessive cerebellar ataxia in a Tunisian family
Mrissa, N, Belal, S, Hamida, C B, Amouri, R, Turki, I, Mrissa, R, Hamida, M B, Hentati, F
Published in Neurology (11.04.2000)
Published in Neurology (11.04.2000)
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Journal Article
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I
Driss, A, Noguchi, S, Amouri, R, Kefi, M, Sasaki, T, Sugie, K, Souilem, S, Hayashi, Y K, Shimizu, N, Minoshima, S, Kudoh, J, Hentati, F, Nishino, I
Published in Neurology (22.04.2003)
Published in Neurology (22.04.2003)
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Journal Article
A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
Driss, A., Amouri, R., Ben Hamida, C., Souilem, S., Gouider-Khouja, N., Ben Hamida, M., Hentati, F.
Published in Neuromuscular disorders : NMD (01.06.2000)
Published in Neuromuscular disorders : NMD (01.06.2000)
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