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Robert Steinfeld

Observed names: R Steinfeld, R. Steinfeld, R. Steinfeld, Steinfeld, R., Steinfeld, Robert, Steinfeld, Robert; https://orcid.org/0000-0003-0956-6601
Observed institutions: University of Pisa, University of Geneva, Max Planck Society, Universität Hamburg, University of Pittsburgh, Universidade de São Paulo, University of Zurich, Heidelberg University, Rega Institute for Medical Research, Children's Hospital of Eastern Ontario, University Hospital Heidelberg, University of California San Diego, University Hospital of Geneva, University Medical Center Hamburg-Eppendorf, Universitätsmedizin Göttingen, München Klinik, University Children's Hospital Zurich, Max Planck Institute for Biophysical Chemistry, Hospital Maria Pia, Centro Hospitalar do Porto, University of Göttingen, Charité – Universitätsmedizin Berlin, KU Leuven
ORCID: 0000-0003-0956-6601
Observed ORCID: 0000-0003-0956-6601
OpenAlex ID: A5068329685
Loss of the chloride channel ClC‐7 leads to lysosomal storage disease and neurodegeneration
2005 · Dagmar Kasper, Rosa Planells‐Cases, et al. · The EMBO Journal · 370
Choroid plexus transcytosis and exosome shuttling deliver folate into brain parenchyma
2013 · Marcel Grapp, Arne Wrede, et al. · Nature Communications · 336
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Cathepsin D Deficiency Is Associated with a Human Neurodegenerative Disorder
2006 · Robert Steinfeld, Konstanze Reinhardt, et al. · The American Journal of Human Genetics · 302
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Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism
2009 · Robert Steinfeld, Marcel Grapp, et al. · The American Journal of Human Genetics · 279
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Stimulation of fibroblast growth factor receptor-1 occupancy and signaling by cell surface-associated syndecans and glypican.
1996 · R Steinfeld, H Van Den Berghe, et al. · The Journal of Cell Biology · 267
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Monogenic variants in dystonia: an exome-wide sequencing study
2020 · Michael Zech, Robert Jech, et al. · The Lancet Neurology · 214
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
2013 · Sarah C Grünert, Stephanie Müllerleile, et al. · Orphanet Journal of Rare Diseases · 181
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Late infantile neuronal ceroid lipofuscinosis: Quantitative description of the clinical course in patients with CLN2 mutations
2002 · Robert Steinfeld, Peter Heim, et al. · American Journal of Medical Genetics · 178
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
2009 · Marco Henneke, Simone Diekmann, et al. · Nature Genetics · 153
Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency
2012 · M. Grapp, I. A. Just, et al. · Brain · 131
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center
2021 · Theresa Brunet, Robert Jech, et al. · Clinical Genetics · 119
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The expanding clinical and genetic spectrum of ATP1A3-related disorders
2014 · Hendrik Rosewich, Andreas Ohlenbusch, et al. · Neurology · 117
Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
2018 · Nikolas Boy, Katharina Mengler, et al. · Annals of Neurology · 108
Characterization of Glypican-5 and Chromosomal Localization of HumanGPC5,a New Member of the Glypican Gene Family
1997 · Mark Veugelers, Joris Vermeesch, et al. · Genomics · 105
Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency
2011 · Siddharth Banka, Henk J. Blom, et al. · The American Journal of Human Genetics · 96
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Glutaric aciduria type I: Pathomechanisms of neurodegeneration
1999 · K. Ullrich, B. Flott‐Rahmel, et al. · Journal of Inherited Metabolic Disease · 91
Mitochondrial biogenesis is transcriptionally repressed in lysosomal lipid storage diseases
2019 · King Faisal Yambire, Lorena Fernandez-Mosquera, et al. · eLife · 90
Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course
2011 · Samuel Groeschel, Christiane Kehrer, et al. · Journal of Inherited Metabolic Disease · 89
Propionic acidemia: neonatal versus selective metabolic screening
2011 · S. C. Grünert, S. Müllerleile, et al. · Journal of Inherited Metabolic Disease · 88
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
2019 · Paranchai Boonsawat, Pascal Joset, et al. · Genetics in Medicine · 86
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Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort
2014 · Christiane Kehrer, Samuel Groeschel, et al. · Orphanet Journal of Rare Diseases · 82
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Mode of Interaction of G-Quartets with the Integrase of Human Immunodeficiency Virus Type 1
1997 · Peter Cherepanov, José A. Esté, et al. · Molecular Pharmacology · 76
Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior
2016 · Lisa A. Pan, Petra Martin, et al. · American Journal of Psychiatry · 69
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Lysosome-mediated apoptosis is associated with cathepsin D-specific processing of bid at Phe24, Trp48, and Phe183.
2012 · Hanna Appelqvist, Ann-Charlotte Johansson, et al. · PubMed · 66
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene
2009 · Matthew Feldhammer, Stéphanie Durand, et al. · Human Mutation · 63
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Works count: 137
Citation count: 4,987
H-index: 38
I10-index: 62
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