Molecular Genetics of Charcot-Marie-Tooth Disease: From Genes to Genomes
Azzedine, H., Senderek, J., Rivolta, C., Chrast, R.
Published in Molecular syndromology (01.11.2012)
Published in Molecular syndromology (01.11.2012)
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Journal Article
Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma
Azzedine, H., Bolino, A., Taïeb, T., Birouk, N., Di Duca, M., Bouhouche, A., Benamou, S., Mrabet, A., Hammadouche, T., Chkili, T., Gouider, R., Ravazzolo, R., Brice, A., Laporte, J., LeGuern, E.
Published in American journal of human genetics (01.05.2003)
Published in American journal of human genetics (01.05.2003)
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Journal Article
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
Azzedine, H, Ravisé, N, Verny, C, Gabrëels-Festen, A, Lammens, M, Grid, D, Vallat, J M, Durosier, G, Senderek, J, Nouioua, S, Hamadouche, T, Bouhouche, A, Guilbot, A, Stendel, C, Ruberg, M, Brice, A, Birouk, N, Dubourg, O, Tazir, M, LeGuern, E
Published in Neurology (22.08.2006)
Published in Neurology (22.08.2006)
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Journal Article
LC-MS/MS profiling of the poisonous wild mushroom, Entoloma mastoideum, (Entolomataceae, Basidiomycota) in Sabah (Northern Borneo), Malaysia
M.H. Subari, Ily Azzedine Alaia, Mutthumanickam, Gowri, Hj. Jikal, Muhammad, Shah, Muhammad Dawood, Tan, Jen Kit, Tan, Yee Shin, Palasubermaniam, Praneetha, Palaniveloo, Kishneth, Sathiya Seelan, Jaya Seelan
Published in Toxicon (Oxford) (28.11.2024)
Published in Toxicon (Oxford) (28.11.2024)
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Journal Article
The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V
Dubourg, O, Azzedine, H, Yaou, R Ben, Pouget, J, Barois, A, Meininger, V, Bouteiller, D, Ruberg, M, Brice, A, LeGuern, E
Published in Neurology (13.06.2006)
Published in Neurology (13.06.2006)
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Journal Article
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
Dubourg, O, Azzedine, H, Verny, C, Durosier, G, Birouk, N, Gouider, R, Salih, M, Bouhouche, A, Thiam, A, Grid, D, Mayer, M, Ruberg, M, Tazir, M, Brice, A, LeGuern, E
Published in Neuromolecular medicine (01.03.2006)
Published in Neuromolecular medicine (01.03.2006)
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Journal Article
Phenotypic variability in autosomal recessive axonal Charcot–Marie–Tooth disease due to the R298C mutation in lamin A/C
Tazir, M., Azzedine, H., Assami, S., Sindou, P., Nouioua, S., Zemmouri, R., Hamadouche, T., Chaouch, M., Feingold, J., Vallat, J. M., Leguern, E., Grid, D.
Published in Brain (London, England : 1878) (01.01.2004)
Published in Brain (London, England : 1878) (01.01.2004)
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Journal Article
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families
Bouhouche, Ahmed, Birouk, Nazha, Azzedine, Hamid, Benomar, Ali, Durosier, Garry, Ente, Dorothée, Muriel, Marie-Paule, Ruberg, Merle, Slassi, Ilham, Yahyaoui, Mohamed, Dubourg, Odile, Ouazzani, Reda, LeGuern, Eric
Published in Brain (London, England : 1878) (01.04.2007)
Published in Brain (London, England : 1878) (01.04.2007)
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Journal Article
Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene
Azzedine, H, Ruberg, M, Ente, D, Gilardeau, C, Périé, S, Wechsler, B, Brice, A, LeGuern, E, Dubourg, O
Published in Neuromuscular disorders : NMD (01.05.2003)
Published in Neuromuscular disorders : NMD (01.05.2003)
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Journal Article
PO19-WE-05 Linkage analysis and mutation screening in PANK2 and PLA2G6 genes in 7 consanguineous Saudi Arabian families with Karak syndrome
Azzedine, H, Salih, M.A.M, Khan, A, Mundwiller, E, Aldriss, A, Elmalik, S.A, Kabiraj, M.M, Stevanin, G
Published in Journal of the neurological sciences (2009)
Published in Journal of the neurological sciences (2009)
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Journal Article
G.P.11.12 Phenotypical features of 11 Moroccan families with autosomal recessive Charcot-Marie-Tooth disease associated with mutations in the GDAP1 gene
Bouhouche, A, Azzedine, H, Dubourg, O, Benomar, A, Belaidi, H, Yahyaoui, M, Le Guern, E, Ouazzani, R, Birouk, N
Published in Neuromuscular disorders : NMD (2007)
Published in Neuromuscular disorders : NMD (2007)
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Journal Article
Charcot–Marie–Tooth 2-like presentation of an Algerian family with giant axonal neuropathy
Zemmouri, R., Azzedine, H., Assami, S., Kitouni, N., Vallat, J.M., Maisonobe, T., Hamadouche, T., Kessaci, M., Mansouri, B., Le Guern, E., Grid, D., Tazir, M.
Published in Neuromuscular disorders : NMD (01.12.2000)
Published in Neuromuscular disorders : NMD (01.12.2000)
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Journal Article
Modeling and Dimensioning of a Planar Inductor for a Monolithic Integration
Rabia, M, Azzedine, H, Lebey, T
Published in 2011 Asia-Pacific Power and Energy Engineering Conference (01.03.2011)
Published in 2011 Asia-Pacific Power and Energy Engineering Conference (01.03.2011)
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Conference Proceeding
Reply: Is SIGMAR1 a confirmed FTD/MND gene?
Bernard-Marissal, Nathalie, Médard, Jean-Jacques, Azzedine, Hamid, Chrast, Roman
Published in Brain (London, England : 1878) (01.11.2015)
Published in Brain (London, England : 1878) (01.11.2015)
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Journal Article
Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p
Stevanin, Giovanni, Bouslam, Naima, Thobois, Stéphane, Azzedine, Hamid, Ravaux, Lucas, Boland, Anne, Schalling, Martin, Broussolle, Emmanuel, Dürr, Alexandra, Brice, Alexis
Published in Annals of neurology (01.01.2004)
Published in Annals of neurology (01.01.2004)
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Journal Article
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
Bouslam, Naima, Benomar, Ali, Azzedine, Hamid, Bouhouche, Ahmed, Namekawa, Michito, Klebe, Stephan, Charon, Céline, Durr, Alexandra, Ruberg, Merle, Brice, Alexis, Yahyaoui, Mohamed, Stevanin, Giovanni
Published in Annals of neurology (01.04.2005)
Published in Annals of neurology (01.04.2005)
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Journal Article
A novel locus for autosomal recessive spastic ataxia on chromosome 17p
BOUSLAM, Naima, BOUHOUCHE, Ahmed, BRICE, Alexis, YAHYAOUI, Mohamed, STEVANIN, Giovanni, BENOMAR, Ali, HANEIN, Sylvain, KLEBE, Stephan, AZZEDINE, Hamid, DI GIANDOMENICO, Silvia, BOLAND-AUGE, Anne, SANTORELLI, Filippo M, DURR, Alexandra
Published in Human genetics (01.05.2007)
Published in Human genetics (01.05.2007)
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Journal Article
KIF1A missense mutations in SPG30: Distinct phenotypes according to the nature of the mutations
Klebe, S., Lossos, A., Azzedine, H., Mundwiller, E., Meiner, V., Gaussen, M., Marelli, C., Nawara, M., Carpentier, W., Meyer, V., Raststetter, A., Martin, E., Orlando, L., Gyapay, G., El-Hachimi, K., Zimmermann, B., Lerer, I., Brice, A., Durr, A., Stevanin, G.
Published in Basal ganglia (01.03.2013)
Published in Basal ganglia (01.03.2013)
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Journal Article