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Robert Steinfeld
Robert Steinfeld
Professor of Pediatric Neurology, University of Göttingen
在 med.uni-goettingen.de 的电子邮件经过验证
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引用次数
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年份
Loss of the chloride channel ClC‐7 leads to lysosomal storage disease and neurodegeneration
D Kasper, R Planells‐Cases, JC Fuhrmann, O Scheel, O Zeitz, K Ruether, ...
The EMBO journal 24 (5), 1079-1091, 2005
4222005
Choroid plexus transcytosis and exosome shuttling deliver folate into brain parenchyma
M Grapp, A Wrede, M Schweizer, S Hüwel, HJ Galla, N Snaidero, ...
Nature communications 4 (1), 2123, 2013
3282013
Stimulation of fibroblast growth factor receptor-1 occupancy and signaling by cell surface-associated syndecans and glypican.
R Steinfeld, H Van Den Berghe, G David
The Journal of cell biology 133 (2), 405-416, 1996
3281996
Cathepsin D deficiency is associated with a human neurodegenerative disorder
R Steinfeld, K Reinhardt, K Schreiber, M Hillebrand, R Kraetzner, W Brück, ...
The American Journal of Human Genetics 78 (6), 988-998, 2006
3192006
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism
R Steinfeld, M Grapp, R Kraetzner, S Dreha-Kulaczewski, G Helms, ...
The American Journal of Human Genetics 85 (3), 354-363, 2009
2692009
Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency
A Schmidt, B Marescau, EA Boehm, WKJ Renema, R Peco, A Das, ...
Human molecular genetics 13 (9), 905-921, 2004
1822004
Late infantile neuronal ceroid lipofuscinosis: Quantitative description of the clinical course in patients with CLN2 mutations
R Steinfeld, P Heim, H von Gregory, K Meyer, K Ullrich, HH Goebel, ...
American journal of medical genetics 112 (4), 347-354, 2002
1812002
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
SC Grünert, S Müllerleile, L De Silva, M Barth, M Walter, K Walter, ...
Orphanet journal of rare diseases 8, 1-9, 2013
1772013
Monogenic variants in dystonia: an exome-wide sequencing study
M Zech, R Jech, S Boesch, M Škorvánek, S Weber, M Wagner, C Zhao, ...
The Lancet Neurology 19 (11), 908-918, 2020
1602020
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection
M Henneke, S Diekmann, A Ohlenbusch, J Kaiser, V Engelbrecht, ...
Nature genetics 41 (7), 773-775, 2009
1492009
Characterization of Glypican-5 and Chromosomal Localization of HumanGPC5, a New Member of the Glypican Gene Family
M Veugelers, J Vermeesch, G Reekmans, R Steinfeld, P Marynen, ...
Genomics 40 (1), 24-30, 1997
1351997
Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency
M Grapp, IA Just, T Linnankivi, P Wolf, T Lücke, M Häusler, J Gärtner, ...
Brain 135 (7), 2022-2031, 2012
1302012
Mode of interaction of G-quartets with the integrase of human immunodeficiency virus type 1
P Cherepanov, JA Esté, RF Rando, JO Ojwang, G Reekmans, R Steinfeld, ...
Molecular Pharmacology 52 (5), 771-780, 1997
1201997
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency
S Banka, HJ Blom, J Walter, M Aziz, J Urquhart, CM Clouthier, GI Rice, ...
The American Journal of Human Genetics 88 (2), 216-225, 2011
1142011
Glutaric aciduria type I: pathomechanisms of neurodegeneration
K Ullrich, B Flott-Rahmel, P Schluff, U Musshoff, A Das, T Lücke, ...
Journal of inherited metabolic disease 22, 392-403, 1999
1141999
The expanding clinical and genetic spectrum of ATP1A3-related disorders
H Rosewich, A Ohlenbusch, P Huppke, L Schlotawa, M Baethmann, ...
Neurology 82 (11), 945-955, 2014
1112014
Propionic acidemia: neonatal versus selective metabolic screening
SC Grünert, S Müllerleile, L De Silva, M Barth, M Walter, K Walter, ...
Journal of inherited metabolic disease 35, 41-49, 2012
1022012
Newborn screening: a disease‐changing intervention for glutaric aciduria type 1
N Boy, K Mengler, E Thimm, KA Schiergens, T Marquardt, N Weinhold, ...
Annals of neurology 83 (5), 970-979, 2018
952018
Neurometabolic disorders: potentially treatable abnormalities in patients with treatment-refractory depression and suicidal behavior
LA Pan, P Martin, T Zimmer, AM Segreti, S Kassiff, BW McKain, CA Baca, ...
American journal of psychiatry 174 (1), 42-50, 2017
822017
Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course
S Groeschel, C Kehrer, C Engel, C í Dali, A Bley, R Steinfeld, W Grodd, ...
Journal of inherited metabolic disease 34, 1095-1102, 2011
822011
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