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Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia

British journal of anaesthesia : BJA, 2001-02, Vol.86 (2), p.283-287

2001

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Common variation in NCAN, a risk factor for bipolar disorder and schizophrenia, influences local cortical folding in schizophrenia

Psychological medicine, 2014-03, Vol.44 (4), p.811-820

2014

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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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Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

Human mutation, 2002-08, Vol.20 (2), p.127-132

2002

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Effect of regular sauna on epidermal barrier function and stratum corneum water-holding capacity in vivo in humans: a controlled study

Dermatology (Basel), 2008-01, Vol.217 (2), p.173-180

2008

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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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Morphological and electrophysiological features of mature neurons in differentiated skin-derived precursor cells

Journal of stem cells & regenerative medicine, 2012-01, Vol.8 (1), p.35-36

2012

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Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin)

Neurology, 2006-02, Vol.66 (3), p.421-423

2006

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POS-03.92: Early detection of prostata carcinoma: comparison of the diagnostical accuracy of complexed psa and ratio c/tpsa versus total psa and ratio F/TPSA

Urology (Ridgewood, N.J.), 2007, Vol.70 (3), p.301-301

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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Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene

Journal of neurology, neurosurgery and psychiatry, 2003-08, Vol.74 (8), p.1109-1112

2003

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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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G.P.18.10 A novel duplication in the SPAST gene associated to gender difference of hereditary spastic paraplegia

Neuromuscular disorders : NMD, 2007, Vol.17 (9), p.893-893

2007

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Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short‐chain acyl‐CoA dehydrogenase gene

Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.37-42

2003

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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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Nerve cell lesions caused by 3‐hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I

Journal of inherited metabolic disease, 1997-07, Vol.20 (3), p.387-390

1997

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PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype

Clinical genetics, 2003-01, Vol.63 (1), p.73-75

2003

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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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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

Human molecular genetics, 2000-03, Vol.9 (4), p.637-644

2000

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Ein neuer Genort für eine autosomal-dominante, nichtsyndromale Schwerhörigkeit (DFNA33) liegt auf Chromosom 13q34-qter

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

2009

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Pyridoxine--responsive West syndrome and gamma-aminobutyric acid

European journal of pediatrics, 1997-02, Vol.156 (2), p.158

1997

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Assessment of tubular reabsorption of sodium, glucose, phosphate and amino acids based on spot urine samples

Acta Paediatrica, 1994-12, Vol.83 (12), p.1282-1286

1994

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Effects of fat-modified dairy products on blood lipids in humans in comparison with other fats

Annals of nutrition and metabolism, 2005, Vol.49 (1), p.42-48

2005

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Carbohydrate-deficient glycoprotein syndrome (CDGS)--glycosylation, folding and intracellular transport of newly synthesized glycoproteins

European journal of cell biology, 1995-03, Vol.66 (3), p.268-273

1995

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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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Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia

Common variation in NCAN, a risk factor for bipolar disorder and schizophrenia, influences local cortical folding in schizophrenia

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

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

Effect of regular sauna on epidermal barrier function and stratum corneum water-holding capacity in vivo in humans: a controlled study

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

Morphological and electrophysiological features of mature neurons in differentiated skin-derived precursor cells

Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin)

POS-03.92: Early detection of prostata carcinoma: comparison of the diagnostical accuracy of complexed psa and ratio c/tpsa versus total psa and ratio F/TPSA

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

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene

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

G.P.18.10 A novel duplication in the SPAST gene associated to gender difference of hereditary spastic paraplegia

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short‐chain acyl‐CoA dehydrogenase gene

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

Nerve cell lesions caused by 3‐hydroxyglutaric acid: A possible mechanism for neurodegeneration in glutaric acidaemia I

PROMM and deafness: exclusion of ZNF9 as the disease gene in DFNA18 suggests a polygenic origin of the PROMM/DM2 phenotype

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

Ein neuer Genort für eine autosomal-dominante, nichtsyndromale Schwerhörigkeit (DFNA33) liegt auf Chromosom 13q34-qter

Pyridoxine--responsive West syndrome and gamma-aminobutyric acid

Assessment of tubular reabsorption of sodium, glucose, phosphate and amino acids based on spot urine samples

Effects of fat-modified dairy products on blood lipids in humans in comparison with other fats

Carbohydrate-deficient glycoprotein syndrome (CDGS)--glycosylation, folding and intracellular transport of newly synthesized glycoproteins

Genetic homogeneity at the Friedreich ataxia locus on chromosome 9

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