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Barbara Plecko

Showing results (81-90 of 113) with videos related to

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Molecular Genetics and Metabolism|May 27, 2008
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Roberto Giugliani, Ida Vanessa D Schwartz, et al.
Frontiers in Immunology|May 1, 2026
Beyond the interferon score: neurofilament light chain and glial fibrillary acidic protein capture immune-mediated neuroinjury and response to JAK inhibition in Aicardi-Goutières syndromeLisa Wege, Christian Klemann, Sandy Siegert, et al.
Archives of Neurology|May 16, 2007
Hereditary spastic paraplegia 3A associated with axonal neuropathyNeviana Ivanova, Kristl G Claeys, Tine Deconinck, et al.
Journal of Pediatric Rehabilitation Medicine|July 17, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseCeleste Decker, Zi-Fan Yu, Roberto Giugliani, et al.
Journal of Inherited Metabolic Disease|February 9, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Zi-Fan Yu, Roberto Giugliani, et al.
Journal of Medical Genetics|August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disordersReza Asadollahi, Beatrice Oneda, Pascal Joset, et al.
Parkinsonism & Related Disorders|December 10, 2021
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxiaMatej Skorvanek, Irena Rektorova, Wim Mandemakers, et al.
Frontiers in Genetics|April 29, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiencyUwe Ahting, Johannes A Mayr, Arnaud V Vanlander, et al.
Nature Communications|March 12, 2016
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDLPaulina Bartuzi, Daniel D Billadeau, Robert Favier, et al.
Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.
Pageof 12

Showing results (81-90 of 113) with videos related to

Sort By:
Pageof 12
Molecular Genetics and Metabolism|May 27, 2008
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Roberto Giugliani, Ida Vanessa D Schwartz, et al.
Frontiers in Immunology|May 1, 2026
Beyond the interferon score: neurofilament light chain and glial fibrillary acidic protein capture immune-mediated neuroinjury and response to JAK inhibition in Aicardi-Goutières syndromeLisa Wege, Christian Klemann, Sandy Siegert, et al.
Archives of Neurology|May 16, 2007
Hereditary spastic paraplegia 3A associated with axonal neuropathyNeviana Ivanova, Kristl G Claeys, Tine Deconinck, et al.
Journal of Pediatric Rehabilitation Medicine|July 17, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfataseCeleste Decker, Zi-Fan Yu, Roberto Giugliani, et al.
Journal of Inherited Metabolic Disease|February 9, 2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatasePaul Harmatz, Zi-Fan Yu, Roberto Giugliani, et al.
Journal of Medical Genetics|August 10, 2014
The clinical significance of small copy number variants in neurodevelopmental disordersReza Asadollahi, Beatrice Oneda, Pascal Joset, et al.
Parkinsonism & Related Disorders|December 10, 2021
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxiaMatej Skorvanek, Irena Rektorova, Wim Mandemakers, et al.
Frontiers in Genetics|April 29, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiencyUwe Ahting, Johannes A Mayr, Arnaud V Vanlander, et al.
Nature Communications|March 12, 2016
CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDLPaulina Bartuzi, Daniel D Billadeau, Robert Favier, et al.
Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.
Pageof 12