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Orphanet Journal of Rare Diseases
|
May 20, 2021
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
Annette Bley, Jonas Denecke, Alfried Kohlschütter, et al.
Journal of Clinical Medicine
|
September 14, 2024
Overview of Neuro-Ophthalmic Findings in Leukodystrophies
Charlotte Maria Bettinger, Simon Dulz, Yevgeniya Atiskova, et al.
Frontiers in Genetics
|
November 22, 2021
Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency
Amelie S Lotz-Havla, Mathias Woidy, Philipp Guder, et al.
Life Science Alliance
|
July 1, 2026
Peroxisomal interactome mapping enables network-based modelling of function and disease
Søren W Gersting, Julia V Cramer, Philipp Guder, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research
|
October 27, 2018
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26
Philipp Guder, Amelie S Lotz-Havla, Mathias Woidy, et al.
Journal of Proteome Research
|
August 12, 2021
iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations
Amelie S Lotz-Havla, Mathias Woidy, Philipp Guder, et al.
Acta Neuropathologica
|
March 29, 2019
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Sina K Stumpf, Stefan A Berghoff, Andrea Trevisiol, et al.
Acta Neuropathologica
|
September 5, 2019
Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Sina K Stumpf, Stefan A Berghoff, Andrea Trevisiol, et al.
Annals of Neurology
|
May 26, 2022
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Oya Kuseyri Hübschmann, Natalia Alexandra Juliá-Palacios, Mireia Olivella, et al.
Scientific Reports
|
September 30, 2021
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
E M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.
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of 2
Search research articles
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Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Orphanet Journal of Rare Diseases
|
May 20, 2021
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
Annette Bley, Jonas Denecke, Alfried Kohlschütter, et al.
Journal of Clinical Medicine
|
September 14, 2024
Overview of Neuro-Ophthalmic Findings in Leukodystrophies
Charlotte Maria Bettinger, Simon Dulz, Yevgeniya Atiskova, et al.
Frontiers in Genetics
|
November 22, 2021
Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency
Amelie S Lotz-Havla, Mathias Woidy, Philipp Guder, et al.
Life Science Alliance
|
July 1, 2026
Peroxisomal interactome mapping enables network-based modelling of function and disease
Søren W Gersting, Julia V Cramer, Philipp Guder, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research
|
October 27, 2018
Isoform-specific domain organization determines conformation and function of the peroxisomal biogenesis factor PEX26
Philipp Guder, Amelie S Lotz-Havla, Mathias Woidy, et al.
Journal of Proteome Research
|
August 12, 2021
iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations
Amelie S Lotz-Havla, Mathias Woidy, Philipp Guder, et al.
Acta Neuropathologica
|
March 29, 2019
Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Sina K Stumpf, Stefan A Berghoff, Andrea Trevisiol, et al.
Acta Neuropathologica
|
September 5, 2019
Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Sina K Stumpf, Stefan A Berghoff, Andrea Trevisiol, et al.
Annals of Neurology
|
May 26, 2022
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Oya Kuseyri Hübschmann, Natalia Alexandra Juliá-Palacios, Mireia Olivella, et al.
Scientific Reports
|
September 30, 2021
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
E M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.
Page
of 2