Publications by authors named "Jochen Reiss"

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Molybdenum cofactor deficiency type B knock-in mouse models carrying patient-identical mutations and their rescue by singular AAV injections.
Jochen Reiss

Hum Genet· April 2019

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Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon.
Sylvia Schucht, Rebecca Minso, Christiane Lex, Jochen Reiss, Frauke Stanke

Mol Genet Genomic Med· February 2019

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A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
Simon Julius Mayr, Jörn Oliver Sass, Julia Vry, Janbernd Kirschner, Irina Mader, Jochen Reiss

J Inherit Metab Dis· March 2018

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Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
Joanna Jakubiczka-Smorag, Jose Angel Santamaria-Araujo, Imke Metz, Avadh Kumar, Samy Hakroush, Jochen Reiss

Hum Genet· July 2016

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Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.
Jochen Reiss, Rita Hahnewald

Hum Mutat· January 2011

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Chronological changes of the amplitude-integrated EEG in a neonate with molybdenum cofactor deficiency.
Sintha D Sie, Rogier C J de Jonge, Henk J Blom, Margot F Mulder, Jochen Reiss

J Inherit Metab Dis· December 2010

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Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.
Jörn Oliver Sass, Aysegul Gunduz, Carolina Araujo Rodrigues Funayama, Baris Korkmaz, Kylvia Giselle Dantas Pinto, Jochen Reiss

Brain Dev· August 2010

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Successful treatment of molybdenum cofactor deficiency type A with cPMP.
Alex Veldman, José Angel Santamaria-Araujo, Silvio Sollazzo, James Pitt, Robert Gianello, Jochen Reiss

Pediatrics· May 2010

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AAV-mediated gene therapy for metabolic diseases: dosage and reapplication studies in the molybdenum cofactor deficiency model.
Rita Hahnewald, Waja Wegner, Jochen Reiss

Genet Vaccines Ther· June 2009

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Cranial ultrasound and chronological changes in molybdenum cofactor deficiency.
Mercedes Serrano, Isabel Lizarraga, Jochen Reiss, Anna Paula Dias, Belén Pérez-Dueñas

Pediatr Radiol· October 2007

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A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.
Rita Hahnewald, Silke Leimkühler, Antonia Vilaseca, Cecile Acquaviva-Bourdain, Ulrike Lenz, Jochen Reiss

Mol Genet Metab· November 2006

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Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.
Silke Leimkühler, Mathilde Charcosset, Philippe Latour, Claude Dorche, Soledad Kleppe, Jochen Reiss

Hum Genet· October 2005

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The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis.
Jochen Reiss, Michael Bonin, Herbert Schwegler, Jörn Oliver Sass, Enrico Garattini

Mol Genet Metab· May 2005

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Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease.
Claudia Günther, Kirsten von Hadeln, Tomas Müller-Thomsen, Antonella Alberici, Giuliano Binetti, Jochen Reiss

Neurosci Lett· October 2004

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Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli.
Günter Schwarz, José Angel Santamaria-Araujo, Stefan Wolf, Heon-Jin Lee, Ibrahim M Adham, Jochen Reiss

Hum Mol Genet· June 2004

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Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
Jochen Reiss, Jean L Johnson

Hum Mutat· June 2003

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Molybdenum cofactor-deficient mice resemble the phenotype of human patients.
Heon-Jin Lee, Ibrahim M Adham, Günter Schwarz, Matthias Kneussel, Jörn O Sass, Jochen Reiss

Hum Mol Genet· December 2002

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The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons.
Sigrid Gross-Hardt, Jochen Reiss

Mol Genet Metab· August 2002

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