Search Results - "Ben Hamida, Mongi"

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

“…We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through…”
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Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy by 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

“…Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with…”
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Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35 by Bejaoui, Khemissa, Pericak-Vance, Margaret A, Hentati, Afif, Brown, Robert H, Hung, Wu-Yen, Siddique, Teepu, Speer, Marcy C, Ben Hamida, Christiane, Ben Hamida, Mongi, Hentati, Faycal, Figlewicz, Denise A, Haines, Jonathan, Rimmler, Jackie

“…Amyotrophic lateral sclerosis (ALS) usually presents as a sporadic disorder of motor neurons. However, familial forms of ALS have been described--autosomal…”
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Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q by Ben Othmane, Kamel, Ben Hamida, Mongi, Pericak-Vance, Margaret A, Ben Hamida, Christiane, Blel, Samir, Carter, Susan C, Bowcock, Anne M, Petruhkin, Konstantin, Conrad Gilliam, T, Roses, Allen D, Hentati, Faycal, Vance, Jeffery M

“…Autosomal recessive Duchenne-like muscular dystrophy (DLMD) is a severe dystrophic myopathy. The incidence is unknown because of its clinical similarity to…”
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Ataxia with vitamin E deficiency : refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families by DOERFLINGER, N, LINDER, C, MONGI BEN HAMIDA, PANDOLFO, M, DIDONATO, S, SOKOL, R, KAYDEN, H, LANDRIEU, P, DURR, A, BRICE, A, GOUTIERES, F, KOHLSCHÜTTER, A, OUAHCHI, K, SABOURAUD, P, ALI BENOMAR, MOHAMED YAHYAOUI, MANDEL, J.-L, KOENIG, M, GYAPAY, G, WEISSENBACH, J, LE PASLIER, D, RIGAULT, P, SAMIR BELAL, BEN HAMIDA, C, HENTATI, F

“…Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with often striking resemblance to…”
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Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein by Mandel, Jean-Louis, Inoue, Keizo, Arai, Hiroyuki, Arita, Makoto, Hentati, Fayçal, Hamida, Mongi Ben, Koenig, Michel, Ouahchi, Karim, Sokol, Ronald, Kayden, Herbert

“…Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome 8q13. AVED patients have an…”
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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy by Brown, Robert H, Liu, Jing, Aoki, Masashi, Illa, Isabel, Wu, Chenyan, Fardeau, Michel, Angelini, Corrado, Serrano, Carmen, Urtizberea, J. Andoni, Hentati, Faycal, Hamida, Mongi Ben, Bohlega, Saeed, Culper, Edward J, Amato, Anthony A, Bossie, Karen, Oeltjen, Joshua, Bejaoui, Khemissa, McKenna-Yasek, Diane, Hosler, Betsy A, Schurr, Erwin, Arahata, Kiichi, de Jong, Pieter J

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Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study by Gouider-Khouja, Neziha, Larnaout, Abdelmajid, Amouri, Rim, Sfar, Sana, Belal, Samir, Ben Hamida, Christiane, Ben Hamida, Mongi, Hattori, Nobutaka, Mizuno, Yoshikuni, Hentati, Fayçal

“…Objectives. To report clinical, pathological and genetic findings in a Tunisian kindred with autosomal recessive juvenile parkinsonism (AR-JP) linked to parkin…”
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Identification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15 by Othmane, Kamel Ben, Johnson, Ellen, Menold, Marisa, Graham, Felicia L., Hamida, Mongi Ben, Hasegawa, Osamu, Rogala, Allison D., Ohnishi, Akio, Pericak-Vance, Margaret, Hentati, Faycal, Vance, Jeffery M.

“…Autosomal recessive Charcot–Marie–Tooth disease type 4B (CMT4B) is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of…”
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Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy by Ben Hamida, M, Hentati, F, Ben Hamida, C

“…Forty-three patients with hereditary motor system diseases belonging to 17 families were studied. The clinical features consisted of a bilateral pyramidal…”
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Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping by Nicole, S, Ben Hamida, C, Beighton, P, Bakouri, S, Belal, S, Romero, N, Viljoen, D, Ponsot, G, Sammoud, A, Weissenbach, J

“…Schwartz-Jampel syndrome (SJS, MIM 255800), also known as chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized…”
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Giant axonal neuropathy locus refinement to a < 590 kb critical interval by Cavalier, L, BenHamida, C, Amouri, R, Belal, S, Bomont, P, Lagarde, N, Gressin, L, Callen, D, Demir, E, Topaloglu, H, Landrieu, P, Ioos, C, Hamida, M B, Koenig, M, Hentati, F

“…Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder, characterised clinically by the development of chronic distal…”
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Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers by Hentati, A, Pericak-Vance, M A, Lennon, F, Wasserman, B, Hentati, F, Juneja, T, Angrist, M H, Hung, W Y, Boustany, R M, Bohlega, S

“…'Pure' autosomal dominant familial spastic paraplegia (SPG) is a neurodegenerative disease which clinically manifests as spasticity of the lower limbs…”
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Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval by RODIUS, F, DUCLOS, F, MIGNARD, C, SIRUGO, G, WEISSENBACH, J, COHEN, D, HENTATI, F, HAMIDA, M. B, MANDEL, J.-L, KOENIG, M, WROGEMANN, K, LE PASLIER, D, OUGEN, P, BILLAULT, A, BELAL, S, MUSENGER, C, BRICE, A, DÜRR, A

“…The locus for Friedreich ataxia (FRDA), a severe neurodegenerative disease, is tightly linked to markers D9S5 and D9S15, and analysis of rare recombination…”
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Generation of a 3-Mb PAC Contig Spanning the Miyoshi Myopathy/Limb-Girdle Muscular Dystrophy (MM/LGMD2B) Locus on Chromosome 2p13 by Liu, Jing, Wu, Chenyan, Bossie, Karen, Bejaoui, Khemissa, Hosler, Betsy A., Gingrich, Jeffrey C., Hamida, Mongi Ben, Hentati, Faycal, Schurr, Erwin, de Jong, Pieter J., Brown, Robert H.

“…Miyoshi myopathy (MM) and limb-girdle muscular dystrophy subtype 2B (LGMD2B) map to the same region on chromosome 2p13. To facilitate the cloning of the…”
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Recessive Schwartz-Jampel syndrome (SJS) : confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval by FONTAINE, B, NICOLE, S, BARROS-NUNEZ, P, PONSOT, G, MONGI BEN HAMIDA, WEISSENBACH, J, HENTATI, F, LEHMANN-HORN, F, TOPALOGLU, H, BEN HAMIDA, C, BEIGHTON, P, SPAANS, F, CANTU, J. M. A, BAKOURI, S, ROMERO, N, RICKER, K

“…Schwartz-Jampel syndrome (SJS), or chondrodystrophic myotonia, is a rare autosomal recessive disorder characterized by generalized myotonia resulting in a…”
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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 by Siddique, Teepu, 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

“…Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous…”
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Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia by Ben Hamida, M, Fardeau, M, Attia, N

“…The authors reported a large study of 93 children presenting a severe form of progressive muscular dystrophy. The first clinical symptoms were noticed between…”
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Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33 by Hosler, B A, Sapp, P C, Berger, R, O'Neill, G, Bejaoui, K, Hamida, M B, Hentati, F, Chin, W, McKenna-Yasek, D, Haines, J L, Patterson, D, Horvitz, H R, Brown, Jr, R H, Day, C B

“…Amyotrophic lateral sclerosis (ALS) is a progressive degenerative neuromuscular disease that shows familial, autosomal dominant inheritance in 10%-15% of…”
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Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred by BEN HAMIDA, M, HENTATI, F, BEN HAMIDA, C

“…We describe a large kindred of 6 patients with a slowly progressive autosomal recessive form of giant axonal neuropathy (GAN). The propositus presented with…”
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