Results
|
21.
|
History and current difficulties in classifying inherited myopathies and muscular dystrophies. [electronic resource] by
- Mathis, Stéphane
- Tazir, Meriem
- Magy, Laurent
- Duval, Fanny
- Le Masson, Gwendal
- Duchesne, Mathilde
- Couratier, Philippe
- Ghorab, Karima
- Solé, Guilhem
- Lacoste, Idoia
- Goizet, Cyril
- Vallat, Jean-Michel
Producer: 20180813
In:
Journal of the neurological sciences vol. 384
Availability: No items available.
|
|
22.
|
Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. [electronic resource] by
- Nouioua, Sonia
- Hamadouche, Tarik
- Funalot, Benoit
- Bernard, Rafaëlle
- Bellatache, Nora
- Bouderba, Radia
- Grid, Djamel
- Assami, Salima
- Benhassine, Traki
- Levy, Nicolas
- Vallat, Jean-Michel
- Tazir, Meriem
Producer: 20120119
In:
Neuromuscular disorders : NMD vol. 21
Availability: No items available.
|
|
23.
|
Peripheral myelin protein 22 gene duplication with atypical presentations: a new example of the wide spectrum of Charcot-Marie-Tooth 1A disease. [electronic resource] by
- Mathis, Stéphane
- Corcia, Philippe
- Tazir, Meriem
- Camu, William
- Magdelaine, Corinne
- Latour, Philippe
- Biberon, Julien
- Guennoc, Anne-Marie
- Richard, Laurence
- Magy, Laurent
- Funalot, Benoît
- Vallat, Jean-Michel
Producer: 20150106
In:
Neuromuscular disorders : NMD vol. 24
Availability: No items available.
|
|
24.
|
Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. [electronic resource] by
- De Sandre-Giovannoli, Annachiara
- Chaouch, Malika
- Kozlov, Serguei
- Vallat, Jean-Michel
- Tazir, Meriem
- Kassouri, Nadia
- Szepetowski, Pierre
- Hammadouche, Tarik
- Vandenberghe, Antoon
- Stewart, Colin L
- Grid, Djamel
- Lévy, Nicolas
Producer: 20020322
In:
American journal of human genetics vol. 70
Availability: No items available.
|
|
25.
|
LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort. [electronic resource] by
- Belarbi, Soreya
- Hecham, Nassima
- Lesage, Suzanne
- Kediha, Mohamed I
- Smail, Nourredine
- Benhassine, Traki
- Ysmail-Dahlouk, Farida
- Lohman, Ebba
- Benhabyles, Badia
- Hamadouche, Tarik
- Assami, Salima
- Brice, Alexis
- Tazir, Meriem
Producer: 20110317
In:
Parkinsonism & related disorders vol. 16
Availability: No items available.
|
|
26.
|
Multiple sclerosis: progression rate and severity in a multicenter cohort from Algeria. [electronic resource] by
- Hecham, Nassima
- Nouioua, Sonia
- Sifi, Yamina
- Toubal, Nadia
- Aissa, Leila Ait
- Hattab, Samira
- Batsi, Dounia
- Hamimed, Amine
- Berkane, Fatima
- Oudrer, Naima
- Aidi, Ahmed
- Abrouk, Samira
- Daoudi, Smail
- Hamri, Abdelmadjid
- Assami, Salima
- Tazir, Meriem
Producer: 20151027
In:
Multiple sclerosis (Houndmills, Basingstoke, England) vol. 20
Availability: No items available.
|
|
27.
|
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. [electronic resource] by
- Quinzii, Catarina M
- López, Luis C
- Gilkerson, Robert W
- Dorado, Beatriz
- Coku, Jorida
- Naini, Ali B
- Lagier-Tourenne, Clotilde
- Schuelke, Markus
- Salviati, Leonardo
- Carrozzo, Rosalba
- Santorelli, Filippo
- Rahman, Shamima
- Tazir, Meriem
- Koenig, Michel
- DiMauro, Salvatore
- Hirano, Michio
Producer: 20101101
In:
FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 24
Availability: No items available.
|
|
28.
|
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. [electronic resource] by
- Elleuch, Nizar
- Bouslam, Naima
- Hanein, Sylvain
- Lossos, Alexander
- Hamri, Abdelmadjid
- Klebe, Stephan
- Meiner, Vardiella
- Birouk, Nezha
- Lerer, Israela
- Grid, Djamel
- Bacq, Delphine
- Tazir, Meriem
- Zelenika, Diana
- Argov, Zohar
- Durr, Alexandra
- Yahyaoui, Mohamed
- Benomar, Ali
- Brice, Alexis
- Stevanin, Giovanni
Producer: 20080403
In:
Neurogenetics vol. 8
Availability: No items available.
|
|
29.
|
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. [electronic resource] by
- Stockler-Ipsiroglu, Sylvia
- Apatean, Delia
- Battini, Roberta
- DeBrosse, Suzanne
- Dessoffy, Kimberley
- Edvardson, Simon
- Eichler, Florian
- Johnston, Katherine
- Koeller, David M
- Nouioua, Sonia
- Tazir, Meriem
- Verma, Ashok
- Dowling, Monica D
- Wierenga, Klaas J
- Wierenga, Andrea M
- Zhang, Victor
- Wong, Lee-Jun C
Producer: 20160926
In:
Molecular genetics and metabolism vol. 116
Availability: No items available.
|
|
30.
|
Multicenter transversal two-phase study to determine a national prevalence of epilepsy in Algeria. [electronic resource] by
- Moualek, Dalila
- Pacha, Lamia Ali
- Abrouk, Samira
- Kediha, Mohamed Islam
- Nouioua, Sonia
- Aissa, Leila Ait
- Bellatache, Mounia
- Belarbi, Soreya
- Slimani, Saddek
- Khennouf, Houria
- Fellahi, Lynda
- El Amine Hamimed, Mohamed
- Benali, Nadia
- Chekkour, Mohamed Chahine
- Maamoun, Ramdane
- Dameche, Rachida
- Assami, Salima
- Tazir, Meriem
Producer: 20130222
In:
Neuroepidemiology vol. 39
Availability: No items available.
|
|
31.
|
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. [electronic resource] by
- Fiskerstrand, Torunn
- H'mida-Ben Brahim, Dorra
- Johansson, Stefan
- M'zahem, Abderrahim
- Haukanes, Bjørn Ivar
- Drouot, Nathalie
- Zimmermann, Julian
- Cole, Andrew J
- Vedeler, Christian
- Bredrup, Cecilie
- Assoum, Mirna
- Tazir, Meriem
- Klockgether, Thomas
- Hamri, Abdelmadjid
- Steen, Vidar M
- Boman, Helge
- Bindoff, Laurence A
- Koenig, Michel
- Knappskog, Per M
Producer: 20101007
In:
American journal of human genetics vol. 87
Availability: No items available.
|
|
32.
|
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. [electronic resource] by
- Ishihara, Lianna
- Warren, Liling
- Gibson, Rachel
- Amouri, Rim
- Lesage, Suzanne
- Dürr, Alexandra
- Tazir, Meriem
- Wszolek, Zbigniew K
- Uitti, Ryan J
- Nichols, William C
- Griffith, Alida
- Hattori, Nobutaka
- Leppert, David
- Watts, Ray
- Zabetian, Cyrus P
- Foroud, Tatiana M
- Farrer, Matthew J
- Brice, Alexis
- Middleton, Lefkos
- Hentati, Faycal
Producer: 20061018
In:
Archives of neurology vol. 63
Availability: No items available.
|
|
33.
|
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. [electronic resource] by
- Lagier-Tourenne, Clotilde
- Tazir, Meriem
- López, Luis Carlos
- Quinzii, Catarina M
- Assoum, Mirna
- Drouot, Nathalie
- Busso, Cleverson
- Makri, Samira
- Ali-Pacha, Lamia
- Benhassine, Traki
- Anheim, Mathieu
- Lynch, David R
- Thibault, Christelle
- Plewniak, Frédéric
- Bianchetti, Laurent
- Tranchant, Christine
- Poch, Olivier
- DiMauro, Salvatore
- Mandel, Jean-Louis
- Barros, Mario H
- Hirano, Michio
- Koenig, Michel
Producer: 20080328
In:
American journal of human genetics vol. 82
Availability: No items available.
|
|
34.
|
Clinical features and prognosis of amyotrophic lateral sclerosis in Africa: the TROPALS study. [electronic resource] by
- Luna, Jaime
- Diagana, Mouhamadou
- Ait Aissa, Leila
- Tazir, Meriem
- Ali Pacha, Lamia
- Kacem, Imen
- Gouider, Riadh
- Henning, Franclo
- Basse, Anna
- Cisse, Ousmane
- Balogou, Agnon Ayélola Koffi
- Kombate, Damelan
- Agbetou, Mendinatou
- Houinato, Dismand
- Millogo, Athanase
- Agba, Thierry
- Belo, Mouftao
- Penoty, Marie
- Raymondeau-Moustafa, Marie
- Hamidou, Bello
- Couratier, Philippe
- Preux, Pierre Marie
- Marin, Benoit
Producer: 20191210
In:
Journal of neurology, neurosurgery, and psychiatry vol. 90
Availability: No items available.
|
|
35.
|
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. [electronic resource] by
- Stevanin, Giovanni
- Santorelli, Filippo M
- Azzedine, Hamid
- Coutinho, Paula
- Chomilier, Jacques
- Denora, Paola S
- Martin, Elodie
- Ouvrard-Hernandez, Anne-Marie
- Tessa, Alessandra
- Bouslam, Naïma
- Lossos, Alexander
- Charles, Perrine
- Loureiro, José L
- Elleuch, Nizar
- Confavreux, Christian
- Cruz, Vítor T
- Ruberg, Merle
- Leguern, Eric
- Grid, Djamel
- Tazir, Meriem
- Fontaine, Bertrand
- Filla, Alessandro
- Bertini, Enrico
- Durr, Alexandra
- Brice, Alexis
Producer: 20070620
In:
Nature genetics vol. 39
Availability: No items available.
|
|
36.
|
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases. [electronic resource] by
- Mallaret, Martial
- Renaud, Mathilde
- Redin, Claire
- Drouot, Nathalie
- Muller, Jean
- Severac, Francois
- Mandel, Jean Louis
- Hamza, Wahiba
- Benhassine, Traki
- Ali-Pacha, Lamia
- Tazir, Meriem
- Durr, Alexandra
- Monin, Marie-Lorraine
- Mignot, Cyril
- Charles, Perrine
- Van Maldergem, Lionel
- Chamard, Ludivine
- Thauvin-Robinet, Christel
- Laugel, Vincent
- Burglen, Lydie
- Calvas, Patrick
- Fleury, Marie-Céline
- Tranchant, Christine
- Anheim, Mathieu
- Koenig, Michel
Producer: 20170407
In:
Journal of neurology vol. 263
Availability: No items available.
|
|
37.
|
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans. [electronic resource] by
- Lesage, Suzanne
- Patin, Etienne
- Condroyer, Christel
- Leutenegger, Anne-Louise
- Lohmann, Ebba
- Giladi, Nir
- Bar-Shira, Anat
- Belarbi, Soraya
- Hecham, Nassima
- Pollak, Pierre
- Ouvrard-Hernandez, Anne-Marie
- Bardien, Soraya
- Carr, Jonathan
- Benhassine, Traki
- Tomiyama, Hiroyuki
- Pirkevi, Caroline
- Hamadouche, Tarik
- Cazeneuve, Cécile
- Basak, A Nazli
- Hattori, Nobutaka
- Dürr, Alexandra
- Tazir, Meriem
- Orr-Urtreger, Avi
- Quintana-Murci, Lluis
- Brice, Alexis
Producer: 20100721
In:
Human molecular genetics vol. 19
Availability: No items available.
|
|
38.
|
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study. [electronic resource] by
- Trinh, Joanne
- Gustavsson, Emil K
- Vilariño-Güell, Carles
- Bortnick, Stephanie
- Latourelle, Jeanne
- McKenzie, Marna B
- Tu, Chelsea Szu
- Nosova, Ekaterina
- Khinda, Jaskaran
- Milnerwood, Austen
- Lesage, Suzanne
- Brice, Alexis
- Tazir, Meriem
- Aasly, Jan O
- Parkkinen, Laura
- Haytural, Hazal
- Foroud, Tatiana
- Myers, Richard H
- Sassi, Samia Ben
- Hentati, Emna
- Nabli, Fatma
- Farhat, Emna
- Amouri, Rim
- Hentati, Fayçal
- Farrer, Matthew J
Producer: 20170529
In:
The Lancet. Neurology vol. 15
Availability: No items available.
|
|
39.
|
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. [electronic resource] by
- Moreira, Maria-Céu
- Klur, Sandra
- Watanabe, Mitsunori
- Németh, Andrea H
- Le Ber, Isabelle
- Moniz, José-Carlos
- Tranchant, Christine
- Aubourg, Patrick
- Tazir, Meriem
- Schöls, Lüdger
- Pandolfo, Massimo
- Schulz, Jörg B
- Pouget, Jean
- Calvas, Patrick
- Shizuka-Ikeda, Masami
- Shoji, Mikio
- Tanaka, Makoto
- Izatt, Louise
- Shaw, Christopher E
- M'Zahem, Abderrahim
- Dunne, Eimear
- Bomont, Pascale
- Benhassine, Traki
- Bouslam, Naïma
- Stevanin, Giovanni
- Brice, Alexis
- Guimarães, João
- Mendonça, Pedro
- Barbot, Clara
- Coutinho, Paula
- Sequeiros, Jorge
- Dürr, Alexandra
- Warter, Jean-Marie
- Koenig, Michel
Producer: 20040503
In:
Nature genetics vol. 36
Availability: No items available.
|
|
40.
|
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. [electronic resource] by
- Stevanin, Giovanni
- Azzedine, Hamid
- Denora, Paola
- Boukhris, Amir
- Tazir, Meriem
- Lossos, Alexander
- Rosa, Alberto Luis
- Lerer, Israela
- Hamri, Abdelmadjid
- Alegria, Paulo
- Loureiro, José
- Tada, Masayoshi
- Hannequin, Didier
- Anheim, Mathieu
- Goizet, Cyril
- Gonzalez-Martinez, Victoria
- Le Ber, Isabelle
- Forlani, Sylvie
- Iwabuchi, Kiyoshi
- Meiner, Vardiela
- Uyanik, Goekhan
- Erichsen, Anne Kjersti
- Feki, Imed
- Pasquier, Florence
- Belarbi, Soreya
- Cruz, Vitor T
- Depienne, Christel
- Truchetto, Jeremy
- Garrigues, Guillaume
- Tallaksen, Chantal
- Tranchant, Christine
- Nishizawa, Masatoyo
- Vale, José
- Coutinho, Paula
- Santorelli, Filippo M
- Mhiri, Chokri
- Brice, Alexis
- Durr, Alexandra
Producer: 20080501
In:
Brain : a journal of neurology vol. 131
Availability: No items available.
|