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A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

Human molecular genetics, 2001-02, Vol.10 (4), p.415-421

2001

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Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

Neurology, 2006-08, Vol.67 (4), p.602-606

2006

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Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family

Neurology, 2004-10, Vol.63 (8), p.1527-1529

2004

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Homozygosity Mapping of an Autosomal Recessive Form of Demyelinating Charcot-Marie-Tooth Disease to Chromosome 5q23–q33

Human molecular genetics, 1996-10, Vol.5 (10), p.1685-1688

1996

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Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions

Human molecular genetics, 2001-05, Vol.10 (11), p.1201-1212

2001

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Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination

Human molecular genetics, 1998, Vol.7 (1), p.141-148

1998

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A de Novo Case of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) of Maternal Origin: A New Mechanism for Deletion in 17p11.2?

Human molecular genetics, 1996-01, Vol.5 (1), p.103-106

1996

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The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33

Annals of the New York Academy of Sciences, 1999-10, Vol.883 (1), p.453

1999

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The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33

Annals of the New York Academy of Sciences, 1999-10, Vol.883 (1), p.56

1999

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The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1

Nature genetics, 1995-05, Vol.10 (1), p.84-88

1995

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Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1

European journal of human genetics : EJHG, 1999-12, Vol.7 (8), p.849-859

1999

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Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12 --> p11 and for diagnosis

Cytogenetic and genome research, 1996, Vol.72 (1), p.20-25

1996

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More precise localization of the gene for Hunter syndrome

Genomics (San Diego, Calif.), 1990-07, Vol.7 (3), p.358-362

1990

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A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter : evidence for the existence of a fourth locus

American journal of human genetics, 1994, Vol.54 (1), p.11-20

1994

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Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases

Human molecular genetics, 1995-09, Vol.4 (9), p.1673-1674

1995

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Assignment of 112 Microsatellite Markers to 23 Chromosome 11 Subregions Delineated by Somatic Hybrids: Comparison with the Genetic Map

Genomics (San Diego, Calif.), 1994-05, Vol.21 (2), p.379-387

1994

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La maladie de Charcot-Marie-Tooth: Progrès récents en génétique moléculaire des maladies neuromusculaires

Annales de l'Institut Pasteur. Actualités, 1996, Vol.7 (3), p.179-185

1996

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Simultaneous fluorescence in-situ hybridization (FISH) an R-banding by primed in-situ labelling (PRINS)

Chromosome research, 1999-01, Vol.7 (3), p.241-242

1999

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Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

Cytogenetic and genome research, 1994-01, Vol.65 (4), p.261-264

1994

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Early prenatal diagnosis of 21-hydroxylase deficiency using amniotic fluid 17-hydroxyprogesterone determination and DNA probes

Prenatal diagnosis, 1989-07, Vol.9 (7), p.457-466

1989

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Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a

Journal of medical genetics, 1992-11, Vol.29 (11), p.807-812

1992

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The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33

Annals of the New York Academy of Sciences, 1999-10, Vol.883 (1), p.56-59

1999

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Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathies

American journal of medical genetics. Part A, 2003-04, Vol.118A (1), p.43-48

2003

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Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris"

American journal of human genetics, 1977-05, Vol.29 (3), p.287-293

1977

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The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33

Annals of the New York Academy of Sciences, 1999-10, Vol.883 (1), p.453-456

1999

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A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family

Homozygosity Mapping of an Autosomal Recessive Form of Demyelinating Charcot-Marie-Tooth Disease to Chromosome 5q23–q33

Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination

A de Novo Case of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) of Maternal Origin: A New Mechanism for Deletion in 17p11.2?

The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33

The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1

Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1

Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12 --> p11 and for diagnosis

More precise localization of the gene for Hunter syndrome

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter : evidence for the existence of a fourth locus

Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases

Assignment of 112 Microsatellite Markers to 23 Chromosome 11 Subregions Delineated by Somatic Hybrids: Comparison with the Genetic Map

La maladie de Charcot-Marie-Tooth: Progrès récents en génétique moléculaire des maladies neuromusculaires

Simultaneous fluorescence in-situ hybridization (FISH) an R-banding by primed in-situ labelling (PRINS)

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP)

Early prenatal diagnosis of 21-hydroxylase deficiency using amniotic fluid 17-hydroxyprogesterone determination and DNA probes

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a

The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33

Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathies

Characterization of a variant of beta-hexosaminidase: "hexosaminidase Paris"

The Autosomal Recessive Form of CMT Disease Linked to 5q31-q33

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