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Author Details

Janine Reunert
University Children's Hospital Munster
2009
53
20
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37501103Mitochondrial DNA mutations in Medulloblastoma.Acta Neuropathol Commun2023
37514038Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients.Pharmaceutics2023
34596301Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.Mov Disord2022
34874093A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy.Am J Med Genet A2022
32487539TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.J Med Genet2021
34380532Mannose supplementation in PMM2-CDG.Orphanet J Rare Dis2021
34521447A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis.Orphanet J Rare Dis2021
34576089Uridine Treatment of the First Known Case of SLC25A36 Deficiency.Int J Mol Sci2021
34423067Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.Child Neurol Open2021
33986717Severe Form of ÿIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy-A Case Report.Front Neurol2021
341761363-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.J Inherit Metab Dis2021
34358398Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient.Liver Int2021
34258140Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl-oligosaccharide alpha-1,2-mannnosidase-congenital disorders of glycosylation (MAN1B1-CDG).JIMD Rep2021
33369099Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.Am J Med Genet A2021
32332102TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms.J Med Genet2021
31049936Refining the dermatological spectrum in primary immunodeficiency: mucosa-associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromes.Br J Dermatol2020
32033912Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.Mol Genet Metab2020
33257258Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.Mol Genet Metab2020
33312876L-Fucose treatment of FUT8-CDG.Mol Genet Metab Rep2020
32884905SLC37A4-CDG: Mislocalization of the glucose-6-phosphate transporter to the Golgi causes a new congenital disorder of glycosylation.Mol Genet Metab Rep2020
32852845N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.J Inherit Metab Dis2020
32962735Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).Orphanet J Rare Dis2020
30641270Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples.J Chromatogr B Analyt Technol Biomed Life Sci2019
31332433SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.Brain2019
31075182Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I.Am J Med Genet A2019
28749473SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.Genet Med2018
29618761QIL1-dependent assembly of MICOS complex-lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation.J Hum Genet2018
26940355Determination of serum cholestane-3β,5α,6β-triol by gas chromatography-mass spectrometry for identification of Niemann-Pick type C (NPC) disease.J Steroid Biochem Mol Biol2017
29127204Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects.J Exp Med2017
28794993Limitations of galactose therapy in phosphoglucomutase 1 deficiency.Mol Genet Metab Rep2017
25956699Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.Pediatr Nephrol2016
26333807It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.Alcohol Alcohol2016
26303607News on Clinical Details and Treatment in PGM1-CDG.JIMD Rep2016
27626616A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.Am J Med Genet A2016
27147587Development of a bile acid-based newborn screen for Niemann-Pick disease type C.Sci Transl Med2016
26833332CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.Am J Hum Genet2016
26238249TMEM165 Deficiency: Postnatal Changes in Glycosylation.JIMD Rep2016
25947087Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions.Pediatr Nephrol2016
25305627Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.Clin Biochem2015
26637979SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.Am J Hum Genet2015
26981555Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.EBioMedicine2015
26238912Niemann-Pick type C disease in a 13-year-old boy from Nepal: A genetically confirmed case.Neurol India2015
25778940A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach.J Inherit Metab Dis2015
25772320Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.JIMD Rep2015
24157261ALG1-CDG: a new case with early fatal outcome.Gene2014
25479233Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.PLoS One2014
24875750The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.Clin Chim Acta2014
24499211Multiple phenotypes in phosphoglucomutase 1 deficiency.N Engl J Med2014
24035193Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.Am J Hum Genet2013
22419169Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.Eur J Hum Genet2012
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Collaborators

Thorsten Marquardt
University Children's Hospital Munster
Co-authored papers 53
Julien H Park
Umea University
Co-authored papers 18
Yoshinao Wada
Osaka Women's and Children's Hospital
Co-authored papers 18
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Center for Genomics and Transcriptomics (CeGaT)
Co-authored papers 10
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Center for Human Genetics, KU Leuven and University Hospitals Leuven
Co-authored papers 3
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Center for Metabolic Diseases, University Hospitals of Leuven
Co-authored papers 3
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CNRS, Universite de Lille
Co-authored papers 2
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Unidade de Bioquimica Genetica, Centro Hospitalar Universitario do Porto
Co-authored papers 2
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Co-authored papers 2
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Co-authored papers 2
Jaak Jaeken
Co-authored papers 2
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University Hospital Muenster
Co-authored papers 2
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Hospital Reutlingen
Co-authored papers 1
Martin Zenker
Co-authored papers 1
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University of California San Francisco
Co-authored papers 1
Marcel Kool
Hopp Children's Cancer Center (KiTZ)
Co-authored papers 1
Jordan W Smoller
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 1
Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 1
Erika Souche
Center for Human Genetics
Co-authored papers 1
Stefan M Pfister
Hopp Children's Cancer Center Heidelberg (KiTZ)
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Eugen Boltshauser
Children's University Hospital
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Stefanie J??ger
Institute of Molecular Biosciences, Goethe University Frankfurt
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Susana Nobre
Centro Hospitalar e Universitario de Coimbra
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Dirk Foell
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