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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. [electronic resource] by
- Piccolo, F
- Roberds, S L
- Jeanpierre, M
- Leturcq, F
- Azibi, K
- Beldjord, C
- Carrié, A
- Récan, D
- Chaouch, M
- Reghis, A
Producer: 19951012
In:
Nature genetics vol. 10
Availability: No items available.
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Laminin abnormality in severe childhood autosomal recessive muscular dystrophy. [electronic resource] by
- Yamada, H
- Tomé, F M
- Higuchi, I
- Kawai, H
- Azibi, K
- Chaouch, M
- Roberds, S L
- Tanaka, T
- Fujita, S
- Mitsui, T
Producer: 19950718
In:
Laboratory investigation; a journal of technical methods and pathology vol. 72
Availability: No items available.
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Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. [electronic resource] by
- Azibi, K
- Bachner, L
- Beckmann, J S
- Matsumura, K
- Hamouda, E
- Chaouch, M
- Chaouch, A
- Ait-Ouarab, R
- Vignal, A
- Weissenbach, J
Producer: 19931230
In:
Human molecular genetics vol. 2
Availability: No items available.
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Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. [electronic resource] by
- 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
Producer: 20040310
In:
Brain : a journal of neurology vol. 127
Availability: No items available.
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Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11. [electronic resource] by
- De Sandre-Giovannoli, A
- Delague, V
- Hamadouche, T
- Chaouch, M
- Krahn, M
- Boccaccio, I
- Maisonobe, T
- Chouery, E
- Jabbour, R
- Atweh, S
- Grid, D
- Mégarbané, A
- Lévy, N
Producer: 20060331
In:
Journal of medical genetics vol. 42
Availability: No items available.
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Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. [electronic resource] by
- Jung, D
- Leturcq, F
- Sunada, Y
- Duclos, F
- Tomé, F M
- Moomaw, C
- Merlini, L
- Azibi, K
- Chaouch, M
- Slaughter, C
- Fardeau, M
- Kaplan, J C
- Campbell, K P
Producer: 19960712
In:
FEBS letters vol. 381
Availability: No items available.
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11.
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The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. [electronic resource] by
- Chaouch, M
- Allal, Y
- De Sandre-Giovannoli, A
- Vallat, J M
- Amer-el-Khedoud, A
- Kassouri, N
- Chaouch, A
- Sindou, P
- Hammadouche, T
- Tazir, M
- Lévy, N
- Grid, D
Producer: 20030312
In:
Neuromuscular disorders : NMD vol. 13
Availability: No items available.
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Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa. [electronic resource] by
- Hamadouche, T
- Poitelon, Y
- Genin, E
- Chaouch, M
- Tazir, M
- Kassouri, N
- Nouioua, S
- Chaouch, A
- Boccaccio, I
- Benhassine, T
- De Sandre-Giovannoli, A
- Grid, D
- Lévy, N
- Delague, V
Producer: 20081113
In:
Annals of human genetics vol. 72
Availability: No items available.
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Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. [electronic resource] by
- Eymard, B
- Romero, N B
- Leturcq, F
- Piccolo, F
- Carrié, A
- Jeanpierre, M
- Collin, H
- Deburgrave, N
- Azibi, K
- Chaouch, M
- Merlini, L
- Thémar-Noël, C
- Penisson, I
- Mayer, M
- Tanguy, O
- Campbell, K P
- Kaplan, J C
- Tomé, F M
- Fardeau, M
Producer: 19970611
In:
Neurology vol. 48
Availability: No items available.
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Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays. [electronic resource] by
- 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
Producer: 20110425
In:
Journal of neurology vol. 258
Availability: No items available.
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