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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Nature genetics, 2000-11, Vol.26 (3), p.370-374

2000

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Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

Nature genetics, 2000-12, Vol.26 (4), p.480-483

2000

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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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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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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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Autosomal Recessive Ataxia Caused by Three Distinct Gene Defects in a Single Consanguineous Family

Journal of neurogenetics, 2008, Vol.22 (2), p.139-148

2008

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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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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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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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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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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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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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HEREDITARY MOTOR SYSTEM DISEASES (CHRONIC JUVENILE AMYOTROPHIC LATERAL SCLEROSIS)

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

1990

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Adhalin deficiency

Neurology, 1996-06, Vol.46 (6), p.1784-1784

Hamida, C B

1996

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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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Morphometric study of the sensory nerve in classical (or Charcot disease) and juvenile amyotrophic lateral sclerosis

Journal of the neurological sciences, 1987-05, Vol.78 (3), p.313-329

1987

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Age-dependent axonal loss in nerve biopsy of patients with xeroderma pigmentosum

Neuromuscular disorders : NMD, 1992, Vol.2 (5), p.361-369

1992

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Les atrophies péronières en Tunisie

Journal of the neurological sciences, 1981-06, Vol.50 (3), p.335-356

1981

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Les atrophies péronières en Tunisie: Étude de 70 observations pures ou associées à d'autres affections hérédodégénératives

Journal of the neurological sciences, 1981, Vol.50 (3), p.335-356

1981

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Correspondences between the binding characteristics of a non-natural peptide, Lei-Dab7, and the distribution of SK subunits in the rat central nervous system

European journal of pharmacology, 2015-04, Vol.752, p.106-111

2015

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

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

2000

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The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

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

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

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

Autosomal Recessive Ataxia Caused by Three Distinct Gene Defects in a Single Consanguineous Family

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

Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred

Biochemical and immunocytochemical analysis in chronic proximal spinal muscular atrophy

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

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

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

HEREDITARY MOTOR SYSTEM DISEASES (CHRONIC JUVENILE AMYOTROPHIC LATERAL SCLEROSIS)

Adhalin deficiency

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

Morphometric study of the sensory nerve in classical (or Charcot disease) and juvenile amyotrophic lateral sclerosis

Age-dependent axonal loss in nerve biopsy of patients with xeroderma pigmentosum

Les atrophies péronières en Tunisie

Les atrophies péronières en Tunisie: Étude de 70 observations pures ou associées à d'autres affections hérédodégénératives

Correspondences between the binding characteristics of a non-natural peptide, Lei-Dab7, and the distribution of SK subunits in the rat central nervous system

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

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

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