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Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7
Author / Creator:Ben Ammar, A. ; Petit, F. ; Alexandri, N. ; Gaudon, K. ; Bauché, S. ; Rouche, A. ; Gras, D. ; Fournier, E. ; Koenig, J. ; Stojkovic, T. ; Lacour, A. ; Petiot, P. ; Zagnoli, F. ; Viollet, L. ; Pellegrini, N. ; Orlikowski, D. ; Lazaro, L. ; Ferrer, X. ; Stoltenburg, G. ; Paturneau-Jouas, M. ; Hentati, F. ; Fardeau, M. ; Sternberg, D. ; Hantaï, D. ; Richard, P. ; Eymard, B.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of neurology, 2010-05, Vol.257 (5), p.754-766
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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
Author / Creator:Baxter, Rachel V. ; Ben Othmane, Kamel ; Rochelle, Julie M. ; Stajich, Jason E. ; Hulette, Christine ; Dew-Knight, Susan ; Hentati, Faycal ; Ben Hamida, Mongi ; Bel, S. ; Stenger, Judy E. ; Gilbert, John R. ; Pericak-Vance, Margaret A. ; Vance, Jeffery M.
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2002-01, Vol.30 (1), p.21-22
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Microscopic polyangiitis presenting with peripheral and central neurological manifestations
Author / Creator:Sassi, S. Ben ; Ghorbel, I. Ben ; Mizouni, H. ; Houman, M. H. ; Hentati, F.
Publisher:Milan: Springer Milan
Journal title:Neurological sciences, 2011-08, Vol.32 (4), p.727-729
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l-2-Hydroxyglutaric aciduria: Clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability
Author / Creator:Larnaout, A. ; Amouri, R. ; Kefi, M. ; Hentati, F.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2008-12, Vol.31 (Suppl 2), p.375-379
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Mathematical Modeling of T-Cell Activation Kinetic
Author / Creator:Bidot, C. ; Gruy, F. ; Haudin, C.-S. ; El Hentati, F. ; Guy, B. ; Lambert, C.
Publisher:United States: Mary Ann Liebert, Inc
Journal title:Journal of computational biology, 2008-01, Vol.15 (1), p.105-128
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Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays
Author / Creator: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.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Journal of neurology, 2011-01, Vol.258 (1), p.56-67
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Osteoma of the calvaria in l-2-hydroxyglutaric aciduria
Author / Creator:Larnaout, A ; Amouri, R ; Neji, S ; Zouari, M ; Kaabachi, N ; Hentati, F
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.980-980
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Man-in-the-Barrel Syndrome with Combination of Infarctions in the Anterior Spinal Artery and Posterior Inferior Cerebellar Artery Territories
Author / Creator:Ben Sassi, S. ; El Euch, G. ; Regaieg, A. ; Mabrouk, T. ; Zouari, M. ; Ben Romdhane, N. ; Hentati, F.
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cerebrovascular diseases (Basel, Switzerland), 2009-02, Vol.27 (2), p.201-202
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Wernicke's encephalopathy in a patient with Crohn's disease: a pathological study
Author / Creator:Larnaout, A. ; El-Euch, G. ; Kchir, N. ; Filali, A. ; Ben Hamida, M. ; Hentati, F.
Publisher:Berlin: Springer
Journal title:Journal of neurology, 2001-01, Vol.248 (1), p.57-60
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Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient
Author / Creator:Larnaout, A. ; Belal, S. ; Zouari, M. ; Fki, M. ; Hamida, C. Ben ; Goebel, H. H. ; Hamida, M. Ben ; Hentati, F.
Publisher:Berlin: Springer
Journal title:Acta neuropathologica, 1997-06, Vol.93 (6), p.633-637
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Regenerative capacity of human satellite cells: the mitotic clock in cell transplantation
Author / Creator:Donna, S. Di ; Renault, V. ; Forestier, C. ; Piron-Hamelin, G. ; Thiesson, D. ; Cooper, R.N. ; Ponsot, E. ; Decary, S. ; Hentati, F. ; Butler-Browne, G.S. ; Mouly, V. ; Amouri, R.
Publisher:Italy: Springer Nature B.V
Journal title:Neurological sciences, 2000-01, Vol.21 (5 Suppl), p.S943-S951
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Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: a clinicopathological observation in three siblings
Author / Creator:Larnaout, A. ; Belal, S. ; Ben Hamida, C. ; Ben Hamida, M. ; Hentati, F.
Publisher:Berlin: Springer
Journal title:Journal of neurology, 1998-04, Vol.245 (4), p.231-235
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Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1
Author / Creator:Hamida, C.B. ; Cavalier, L. ; Belal, S. ; Sanhaji, H. ; Nadal, N. ; Barhoumi, C. ; M'Rissa, N. ; Marzouki, N. ; Mandel, J.-L. ; Hamida, M.B. ; Koenig, M. ; Hentati, F.
Publisher:United States: Springer Nature B.V
Journal title:Neurogenetics, 1997-11, Vol.1 (2), p.129-133
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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
Author / Creator:Yang, Yi ; Hentati, Afif ; Deng, Han-Xiang ; Dabbagh, Omar ; Sasaki, Toru ; Hirano, Makito ; Hung, Wu-Yen ; Ouahchi, Karim ; Yan, Jianhua ; Azim, Anser C. ; Cole, Natalie ; Gascon, Generoso ; Yagmour, Ayesha ; Ben-Hamida, Mongi ; Pericak-Vance, Margaret ; Hentati, Fayçal ; Siddique, Teepu
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2001-10, Vol.29 (2), p.160-165
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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
Author / Creator:Bomont, Pascale ; Cavalier, Laurent ; Blondeau, François ; Hamida, Christiane Ben ; Belal, Samir ; Tazir, Meriem ; Demir, Ercan ; Topaloglu, Haluk ; Korinthenberg, Rudolf ; Tüysüz, Beyhan ; Landrieu, Pierre ; Hentati, Fayçal ; Koenig, Michel
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-11, Vol.26 (3), p.370-374
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A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease
Author / Creator:Nishioka, Kenya ; Kefi, Mounir ; Jasinska-Myga, Barbara ; Wider, Christian ; Vilariño-Güell, Carles ; Ross, Owen A ; Heckman, Michael G ; Middleton, Lefkos T ; Ishihara-Paul, Lianna ; Gibson, Rachel A ; Amouri, Rim ; Ben Yahmed, Samia ; Ben Sassi, Samia ; Zouari, Mourad ; El Euch, Ghada ; Farrer, Matthew J ; Hentati, Faycal
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2010-04, Vol.81 (4), p.391-395
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Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
Author / Creator:Nicole, Sophie ; Davoine, Claire-Sophie ; Topaloglu, Haluk ; Cattolico, Laurence ; Barral, Duarte ; Beighton, Peter ; Hamida, Christiane Ben ; Hammouda, Hadi ; Cruaud, Corinne ; White, Peter S. ; Samson, Delphine ; Urtizberea, J. Andoni ; Lehmann-Horn, Franck ; Weissenbach, Jean ; Hentati, Faycal ; Fontaine, Bertrand
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2000-12, Vol.26 (4), p.480-483
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Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy
Author / Creator:Noguchi, Satoru ; McNally, Elizabeth M. ; Ben Othmane, Kamel ; Hagiwara, Yasuko ; Mizuno, Yuji ; Yoshida, Mikiharu ; Yamamoto, Hideko ; Bönnemann, Carsten G. ; Gussoni, Emanuela ; Denton, Peter H. ; Kyriakides, Theodoros ; Middleton, Lefkos ; Hentati, Faycal ; Ben Hamida, Mongi ; Nanoka, Ikuya ; Vance, Jeffery M. ; Kunkel, Louis M. ; Ozawa, Eijiro
Publisher:Washington, DC: American Society for the Advancement of Science
Journal title:Science (American Association for the Advancement of Science), 1995-11, Vol.270 (5237), p.819-822
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Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers
Author / Creator:Hentati, Afif ; Ouahchi, Karim ; Pericak-Vance, Margaret A. ; Nijhawan, Deepak ; Ahmad, Arsalan ; Yang, Y. ; Rimmler, Jackie ; Hung, W.-Y. ; Schlotter, Beate ; Ahmed, Akhtar ; Ben Hamida, Mongi ; Hentati, Fayçal ; Siddique, T.
Publisher:United States: Springer Nature B.V
Journal title:Neurogenetics, 1998-12, Vol.2 (1), p.55-60
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Giant axonal neuropathy locus refinement to a < 590 kb critical interval
Author / Creator:Cavalier, Laurent ; BenHamida, Christiane ; Amouri, Rim ; Belal, Samir ; Bomont, Pascale ; Lagarde, Nadège ; Gressin, Laëtitia ; Callen, David ; Demir, Ercan ; Topaloglu, Haluk ; Landrieu, Pierre ; Ioos, Catherine ; Hamida, Mongi Ben ; Kœnig, Michel ; Hentati, Fayçal
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2000-07, Vol.8 (7), p.527-534
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Showing 1 to 20 of 26 results

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Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

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Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

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Microscopic polyangiitis presenting with peripheral and central neurological manifestations

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l-2-Hydroxyglutaric aciduria: Clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability

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Mathematical Modeling of T-Cell Activation Kinetic

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Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

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Osteoma of the calvaria in l-2-hydroxyglutaric aciduria

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Man-in-the-Barrel Syndrome with Combination of Infarctions in the Anterior Spinal Artery and Posterior Inferior Cerebellar Artery Territories

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Wernicke's encephalopathy in a patient with Crohn's disease: a pathological study

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Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient

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Regenerative capacity of human satellite cells: the mitotic clock in cell transplantation

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Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: a clinicopathological observation in three siblings

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Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1

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The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

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A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease

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Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

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Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy

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Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

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Giant axonal neuropathy locus refinement to a < 590 kb critical interval

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