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

Nature genetics, 2002-01, Vol.30 (1), p.21-22

2002

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

Science (American Association for the Advancement of Science), 1995-11, Vol.270 (5237), p.819-822

1995

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Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35

Nature genetics, 1994-07, Vol.7 (3), p.425-428

1994

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Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Nature genetics, 1998-09, Vol.20 (1), p.31-36

1998

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Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q

Nature genetics, 1992-12, Vol.2 (4), p.315-317

1992

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Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

Nature genetics, 1995-02, Vol.9 (2), p.141-145

1995

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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

American journal of human genetics, 1995-05, Vol.56 (5), p.1116-1124

1995

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Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study

Parkinsonism & related disorders, 2003-06, Vol.9 (5), p.247-251

2003

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Identification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15

Genomics (San Diego, Calif.), 1999-12, Vol.62 (3), p.344-349

1999

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Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy

Brain (London, England : 1878), 1990-04, Vol.113 (2), p.347-363

1990

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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

Nature genetics, 2001-10, Vol.29 (2), p.160-165

2001

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Localization of the Schwartz–Jampel syndrome (SJS) locus to chromosome 1p34–p36.1 by homozygosity mapping

Human molecular genetics, 1995-09, Vol.4 (9), p.1633-1636

1995

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

European journal of human genetics : EJHG, 2000-07, Vol.8 (7), p.527-534

2000

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Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

Human molecular genetics, 1994, Vol.3 (10), p.1867-1871

1994

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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

Human genetics, 1996-09, Vol.98 (3), p.380-385

1996

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Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval

American journal of human genetics, 1994-06, Vol.54 (6), p.1050-1059

1994

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Severe childhood muscular dystrophy affecting both sexes and frequent in tunisia

Muscle & nerve, 1983-09, Vol.6 (7), p.469-480

1983

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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

Genomics (San Diego, Calif.), 1998-04, Vol.49 (1), p.23-29

1998

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Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33

Neurogenetics, 1998-12, Vol.2 (1), p.34-42

1998

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Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred

Neurology, 1990-02, Vol.40 (2), p.245-245

1990

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Fine localization of the CMT4A locus using a PAC contig and haplotype analysis

Neurogenetics, 1998-12, Vol.2 (1), p.18-23

1998

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Localization of α-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders

Brain research, 1999-03, Vol.822 (1), p.80-87

1999

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Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus

American journal of human genetics, 1992-12, Vol.51 (6), p.1372-1376

1992

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Biochemical and immunocytochemical analysis in chronic proximal spinal muscular atrophy

Muscle & nerve, 1994-04, Vol.17 (4), p.400-410

1994

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Generalized edema as presenting feature of anti-NXP2 positive Juvenile dermatomyositis: A case report and review of literature

Journal of Clinical Images and Medical Case Reports, 2022-09, Vol.3 (9)

Adouania, Mahdi

2022

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

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

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein

Ataxia with vitamin E deficiency : refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families

Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study

Identification of a New Locus for Autosomal Recessive Charcot–Marie–Tooth Disease with Focally Folded Myelin on Chromosome 11p15

Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy

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

Localization of the Schwartz–Jampel syndrome (SJS) locus to chromosome 1p34–p36.1 by homozygosity mapping

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

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

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

Recombinations in individuals homozygous by descent localize the Friedreich ataxia locus in a cloned 450-kb interval

Severe childhood muscular dystrophy affecting both sexes and frequent in tunisia

Generation of a 3-Mb PAC Contig Spanning the Miyoshi Myopathy/Limb-Girdle Muscular Dystrophy (MM/LGMD2B) Locus on Chromosome 2p13

Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33

Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred

Fine localization of the CMT4A locus using a PAC contig and haplotype analysis

Localization of α-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders

Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus

Biochemical and immunocytochemical analysis in chronic proximal spinal muscular atrophy

Generalized edema as presenting feature of anti-NXP2 positive Juvenile dermatomyositis: A case report and review of literature

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