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Clinical presentation of pediatric multiple sclerosis before puberty

European journal of neurology, 2014-03, Vol.21 (3), p.441-446

2014

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Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients

Journal of inherited metabolic disease, 2016-11, Vol.39 (6), p.869-876

2016

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Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients

Journal of inherited metabolic disease, 2008-04, Vol.31 (2), p.270-280

2008

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Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations

Journal of medical genetics, 2005-09, Vol.42 (9), p.e58-e58

2005

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Rapid quantification of conjugated and unconjugated bile acids and C27 precursors in dried blood spots and small volumes of serum[S]

Journal of lipid research, 2010-06, Vol.51 (6), p.1591-1598

2010

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Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient

Neuropediatrics, 2005-06, Vol.36 (3), p.171-180

2005

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Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect

Neuropediatrics, 2006-04, Vol.37 (2), p.95-98

2006

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Acute and Episodic Movement Disorders: ATP1A3-Related Disorders as Differential Diagnosis

Neuropediatrics, 2017, Vol.48 (S 01), p.S1-S45

2017

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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

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IAP09 Acute cerebellitis with fatal and near-fatal course

European journal of paediatric neurology, 2007, Vol.11, p.57-57

2007

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Biopsy findings of symptomatic cerebral X-linked adrenoleucodystrophy and histological differentiation from multiple sclerosis

Neuropathology and applied neurobiology, 2014-08, Vol.40 (5), p.658-661

2014

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Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism: Phenotypic spectrum of ATP1A3-associated disorders

Neuropediatrics, 2013, Vol.44 (2)

2013

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Cerebral MRI as a valuable tool for the diagnosis of Zellweger syndrome spectrum patients and patients with peroxisomal β-oxidation defects

Neuropediatrics, 2009, Vol.39 (5)

2009

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Alternating hemiplegia of childhood is caused by heterozygous de novo mutations in the ATP1A3 gene: The expanding mutational spectrum of ATP1A3-related dystonic movement disorders

Neuropediatrics, 2013, Vol.44 (2)

2013

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Rational diagnostic for Zellweger Syndrome and other peroxisomal biogenesis defects

Neuropediatrics, 2007, Vol.37 (6)

2007

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Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis

European journal of pediatrics, 2005-05, Vol.164 (5), p.306-310

2005

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Acute cerebellitis with fatal and near-fatal course

Neuropediatrics, 2006, Vol.37 (3)

2006

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A pathognomonic MRI pattern can be the major clue to a peroxisomal disorder in case of pitfalls in metabolic screening

Neuropediatrics, 2005, Vol.36 (2)

2005

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Calprotectin as a New Sensitive Marker of Neutrophilic Inflammation in Patients with Bronchiolitis Obliterans

Mediators of inflammation, 2020, Vol.2020 (2020), p.1-7

2020

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Role of horizontal gene transfer in the evolution of fungi

Annual review of phytopathology, 2000-09, Vol.38 (1), p.325-363

2000

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Nivalenol-Type Populations of Fusarium graminearum and F. asiaticum Are Prevalent on Wheat in Southern Louisiana

Phytopathology, 2011, Vol.101 (1), p.124-134

2011

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Population analysis of Fusarium graminearum from wheat fields in Eastern China

Phytopathology, 2002-12, Vol.92 (12), p.1315-1322

2002

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Management der Primären Ciliären Dyskinesie

Pneumologie (Stuttgart, Germany), 2020-11, Vol.74 (11), p.750-765

2020

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Distinct neurological disorders with ATP1A3 mutations

Lancet neurology, 2014-05, Vol.13 (5), p.503-514

2014

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Management of Primary Ciliary Dyskinesia

Pneumologie (Stuttgart, Germany), 2020-11, Vol.74 (11), p.750

2020

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Clinical presentation of pediatric multiple sclerosis before puberty

Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients

Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations

Rapid quantification of conjugated and unconjugated bile acids and C27 precursors in dried blood spots and small volumes of serum[S]

Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient

Pitfall in metabolic screening in a patient with fatal peroxisomal beta-oxidation defect

Acute and Episodic Movement Disorders: ATP1A3-Related Disorders as Differential Diagnosis

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

IAP09 Acute cerebellitis with fatal and near-fatal course

Biopsy findings of symptomatic cerebral X-linked adrenoleucodystrophy and histological differentiation from multiple sclerosis

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism: Phenotypic spectrum of ATP1A3-associated disorders

Cerebral MRI as a valuable tool for the diagnosis of Zellweger syndrome spectrum patients and patients with peroxisomal β-oxidation defects

Alternating hemiplegia of childhood is caused by heterozygous de novo mutations in the ATP1A3 gene: The expanding mutational spectrum of ATP1A3-related dystonic movement disorders

Rational diagnostic for Zellweger Syndrome and other peroxisomal biogenesis defects

Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis

Acute cerebellitis with fatal and near-fatal course

A pathognomonic MRI pattern can be the major clue to a peroxisomal disorder in case of pitfalls in metabolic screening

Calprotectin as a New Sensitive Marker of Neutrophilic Inflammation in Patients with Bronchiolitis Obliterans

Role of horizontal gene transfer in the evolution of fungi

Nivalenol-Type Populations of Fusarium graminearum and F. asiaticum Are Prevalent on Wheat in Southern Louisiana

Population analysis of Fusarium graminearum from wheat fields in Eastern China

Management der Primären Ciliären Dyskinesie

Distinct neurological disorders with ATP1A3 mutations

Management of Primary Ciliary Dyskinesia

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