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An economic method for the fluorescent labeling of PCR fragments

Nature biotechnology, 2000-02, Vol.18 (2), p.233-234

Schuelke, Markus

2000

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Aicardi‐Goutières syndrome with muscle involvement in early infancy

Neuropathology and applied neurobiology, 2018-12, Vol.44 (7), p.737-742

2018

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A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy

Clinical genetics, 2014-03, Vol.85 (3), p.290-292

2014

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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

Nature genetics, 1999-03, Vol.21 (3), p.260-261

1999

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HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

Nucleic acids research, 2012-07, Vol.40 (Web Server issue), p.W516-W520

2012

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Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

Clinical genetics, 2009-07, Vol.76 (1), p.38-45

2009

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Variants in CPA1 are strongly associated with early onset chronic pancreatitis

Nature genetics, 2013-10, Vol.45 (10), p.1216-1220

2013

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Morvan syndrome associated with CASPR2 and LGI1 antibodies in a child

Neurology, 2018-01, Vol.90 (4), p.183-185

2018

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Muscle and nerve pathology in Dunnigan familial partial lipodystrophy

Neurology, 2007-02, Vol.68 (9), p.677-683

2007

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Treatment of Gabapentin Toxicity With Peritoneal Dialysis: Assessment of Gabapentin Clearance

American journal of kidney diseases, 2017-12, Vol.70 (6), p.878-880

2017

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Blockade of ActRIIB Signaling Triggers Muscle Fatigability and Metabolic Myopathy

Molecular therapy, 2014-08, Vol.22 (8), p.1423-1433

2014

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Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects

PloS one, 2010-07, Vol.5 (7), p.e11897

2010

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Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption

Neuropediatrics, 2005-06, Vol.36 (3), p.193

2005

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Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

American journal of human genetics, 2004-08, Vol.75 (2), p.251-260

2004

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Infant botulism: is there an association with thiamine deficiency?

Pediatrics (Evanston), 2014-11, Vol.134 (5), p.e1436-e1440

2014

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Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

Annals of neurology, 2006-02, Vol.59 (2), p.248-256

2006

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Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis

Neurology : neuroimmunology & neuroinflammation, 2023-05, Vol.10 (3)

2023

Volltextzugriff (PDF)

Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2008-10, Vol.15 (10), p.1568-1572

2008

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Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

Nature genetics, 2001-09, Vol.29 (1), p.75-77

2001

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cDNA of Eight Nuclear Encoded Subunits of NADH:Ubiquinone Oxidoreductase: Human Complex I cDNA Characterization Completed

Biochemical and biophysical research communications, 1998-12, Vol.253 (2), p.415-422

1998

Volltextzugriff (PDF)

Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency

Neurology, 1999-01, Vol.52 (2), p.383-383

1999

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Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Annals of neurology, 2003-12, Vol.54 (6), p.719-724

2003

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The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

American journal of human genetics, 1998-12, Vol.63 (6), p.1598-1608

1998

Volltextzugriff (PDF)

Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy

Neurology, 2000-11, Vol.55 (10), p.1584-1586

2000

Volltextzugriff (PDF)

Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate

FEBS letters, 2006-01, Vol.580 (2), p.455-462

2006

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An economic method for the fluorescent labeling of PCR fragments

Aicardi‐Goutières syndrome with muscle involvement in early infancy

A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)

Variants in CPA1 are strongly associated with early onset chronic pancreatitis

Morvan syndrome associated with CASPR2 and LGI1 antibodies in a child

Muscle and nerve pathology in Dunnigan familial partial lipodystrophy

Treatment of Gabapentin Toxicity With Peritoneal Dialysis: Assessment of Gabapentin Clearance

Blockade of ActRIIB Signaling Triggers Muscle Fatigability and Metabolic Myopathy

Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects

Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

Infant botulism: is there an association with thiamine deficiency?

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis

Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)

Mutations in the gene encoding immunoglobulin μ-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

cDNA of Eight Nuclear Encoded Subunits of NADH:Ubiquinone Oxidoreductase: Human Complex I cDNA Characterization Completed

Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy

Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate

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