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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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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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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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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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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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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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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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Identification of nuclear localisation sequences in spastin ( SPG4) using a novel Tetra-GFP reporter system

Biochemical and biophysical research communications, 2004-06, Vol.318 (4), p.1079-1084

2004

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Non-enzymatic glycosylation of human serum lipoproteins Elevated ϵ-lysine glycosylated low density lipoprotein in diabetic patients

FEBS letters, 1981-06, Vol.129 (1), p.1-4

1981

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Ein neuer Genort für eine autosomal dominante, nichtsyndromale Hörstörung (DFNA57) kartiert auf Chromosom 19p13.2 und überlappt mit DFNB15

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

2008

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Predictive value of S-100β and neuron-specific enolase serum levels for adverse neurologic outcome after cardiac surgery

The Journal of thoracic and cardiovascular surgery, 2000-01, Vol.119 (1), p.138-147

2000

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Determination of L-carnitine in biological fluids and tissues

Journal of clinical chemistry and clinical biochemistry, 1990-05, Vol.28 (5), p.307

Deufel, T

1990

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Features, symptoms, and neurophysiological findings in stroke associated with hyperhomocysteinemia

Archives of neurology (Chicago), 1997-10, Vol.54 (10), p.1276-1282

1997

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Putting science to work: novel diagnostic strategies in laboratory medicine

Expert review of molecular diagnostics, 2006-01, Vol.6 (1), p.9-14

2006

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A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency

Journal of inherited metabolic disease, 1995-05, Vol.18 (3), p.356-357

1995

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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

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

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)

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

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

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

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

Identification of nuclear localisation sequences in spastin ( SPG4) using a novel Tetra-GFP reporter system

Non-enzymatic glycosylation of human serum lipoproteins Elevated ϵ-lysine glycosylated low density lipoprotein in diabetic patients

Ein neuer Genort für eine autosomal dominante, nichtsyndromale Hörstörung (DFNA57) kartiert auf Chromosom 19p13.2 und überlappt mit DFNB15

Predictive value of S-100β and neuron-specific enolase serum levels for adverse neurologic outcome after cardiac surgery

Determination of L-carnitine in biological fluids and tissues

Features, symptoms, and neurophysiological findings in stroke associated with hyperhomocysteinemia

Putting science to work: novel diagnostic strategies in laboratory medicine

A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency

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