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High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

Neurology, 2006-12, Vol.67 (11), p.1926-1930

2006

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Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia

European journal of neurology, 2007-12, Vol.14 (12), p.1322-1328

2007

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A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter

HNO, 2009-04, Vol.57 (4), p.371-376

2009

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A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15

HNO, 2008-02, Vol.56 (2), p.177-182

2008

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Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene

American journal of human genetics, 1995-06, Vol.56 (6), p.1334-1342

1995

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Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

American journal of human genetics, 1992-06, Vol.50 (6), p.1151-1161

1992

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Genetic homogeneity at the Friedreich ataxia locus on chromosome 9

American journal of human genetics, 1989-04, Vol.44 (4), p.518-521

1989

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Absence of known familial hemiplegic migraine (FHM) mutations in the CACNA1A gene in patients with common migraine: Implications for genetic testing

Clinical chemistry and laboratory medicine, 2003-03, Vol.41 (3), p.272-275

2003

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Functional Characterization of a Distinct Ryanodine Receptor Mutation in Human Malignant Hyperthermia-susceptible Muscle

The Journal of biological chemistry, 1997-02, Vol.272 (8), p.5256-5260

1997

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A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees

Human molecular genetics, 1997-06, Vol.6 (6), p.953-961

1997

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Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2

Nature (London), 1990-02, Vol.343 (6258), p.562-564

1990

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Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1

American journal of human genetics, 1995-03, Vol.56 (3), p.684-691

1995

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The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9

The Clinical Investigator, 1993-02, Vol.71 (2), p.109-114

1993

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A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus

European journal of human genetics : EJHG, 2001-03, Vol.9 (3), p.165-170

2001

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Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13

European journal of human genetics : EJHG, 1997-01, Vol.5 (1), p.9-14

1997

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Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect

Human molecular genetics, 1993-07, Vol.2 (7), p.857-862

1993

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Molecular analysis of the heterogeneity of hereditary monosymptomatic sensorineural hearing loss

Laryngo- rhino- otologie, 1996-03, Vol.75 (3), p.141-147

1996

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Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Advances in neurology, 1993, Vol.61, p.97

1993

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Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations

Neuromuscular disorders : NMD, 1992, Vol.2 (5), p.389-396

1992

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Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families

Human molecular genetics, 1994-06, Vol.3 (6), p.969-975

1994

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A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

European journal of human genetics : EJHG, 2007-12, Vol.15 (12), p.1276-1279

2007

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Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause

Human mutation, 2007-07, Vol.28 (7), p.739-740

2007

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An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

Neurogenetics, 2007-11, Vol.8 (4), p.317-318

2007

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High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia

A new gene locus for an autosomal-dominant non-syndromic hearing impairment (DFNA 33) is situated on chromosome 13q34-qter

A new locus for an autosomal dominant, non-syndromic hearing impairment (DFNA57) located on chromosome 19p13.2 and overlapping with DFNB15

Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C1840T transition in the RYR1 gene

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

Genetic homogeneity at the Friedreich ataxia locus on chromosome 9

Absence of known familial hemiplegic migraine (FHM) mutations in the CACNA1A gene in patients with common migraine: Implications for genetic testing

Functional Characterization of a Distinct Ryanodine Receptor Mutation in Human Malignant Hyperthermia-susceptible Muscle

A Genome Wide Search for Susceptibility Loci in Three European Malignant Hyperthermia Pedigrees

Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2

Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1

The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9

A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus

Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13

Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect

Molecular analysis of the heterogeneity of hereditary monosymptomatic sensorineural hearing loss

Clinical and molecular genetic studies on autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause

An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

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