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Amino Acids
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December 20, 2019
Muscle phenotype of AGAT- and GAMT-deficient mice after simvastatin exposure
Ali Sasani, Sönke Hornig, Ricarda Grzybowski, et al.
Frontiers in Physiology
|
July 18, 2018
A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism
Malte Stockebrand, Ali Sasani, Devashish Das, et al.
Bone
|
July 6, 2017
Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
Tim Rolvien, Sebastian Butscheidt, Anke Jeschke, et al.
Human Molecular Genetics
|
October 3, 2012
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
Chi-un Choe, Christine Nabuurs, Malte C Stockebrand, et al.
Nature Medicine
|
November 24, 2015
Treatment during a vulnerable developmental period rescues a genetic epilepsy
Stephan Lawrence Marguet, Vu Thao Quyen Le-Schulte, Andrea Merseburg, et al.
Journal of the Neurological Sciences
|
January 15, 2019
Guanidino compound ratios are associated with stroke etiology, internal carotid artery stenosis and CHA<sub>2</sub>DS<sub>2</sub>-VASc score in three cross-sectional studies
Kathrin Cordts, Ricarda Grzybowski, Susanne Lezius, et al.
Human Molecular Genetics
|
August 23, 2006
C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon
Chi-un Choe, Eric Schulze-Bahr, Axel Neu, et al.
Journal of Patient-Reported Outcomes
|
May 14, 2025
Quality of Life after Brain Injury in children aged six and seven years (QOLIBRI-KIDDY) - development and scale analysis of the first disease-specific self-report instrument for young children after traumatic brain injury
Nicole von Steinbuechel, Marina Zeldovich, Fabian Bockhop, et al.
Neurogenetics
|
October 28, 2017
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Ruth I C Glasgow, Kyle Thompson, Inês A Barbosa, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
December 3, 2024
Correction: A short scale to measure health-related quality of life after traumatic brain injury in children and adolescents (QOLIBRI-OS-KID/ADO): psychometric properties and German reference values
Marina Zeldovich, Leonie Krol, Inga K Koerte, et al.
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Search research articles
Search
Showing results (21-30 of 39) with videos related to
Sort By:
Page
of 4
Amino Acids
|
December 20, 2019
Muscle phenotype of AGAT- and GAMT-deficient mice after simvastatin exposure
Ali Sasani, Sönke Hornig, Ricarda Grzybowski, et al.
Frontiers in Physiology
|
July 18, 2018
A Mouse Model of Creatine Transporter Deficiency Reveals Impaired Motor Function and Muscle Energy Metabolism
Malte Stockebrand, Ali Sasani, Devashish Das, et al.
Bone
|
July 6, 2017
Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
Tim Rolvien, Sebastian Butscheidt, Anke Jeschke, et al.
Human Molecular Genetics
|
October 3, 2012
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
Chi-un Choe, Christine Nabuurs, Malte C Stockebrand, et al.
Nature Medicine
|
November 24, 2015
Treatment during a vulnerable developmental period rescues a genetic epilepsy
Stephan Lawrence Marguet, Vu Thao Quyen Le-Schulte, Andrea Merseburg, et al.
Journal of the Neurological Sciences
|
January 15, 2019
Guanidino compound ratios are associated with stroke etiology, internal carotid artery stenosis and CHA<sub>2</sub>DS<sub>2</sub>-VASc score in three cross-sectional studies
Kathrin Cordts, Ricarda Grzybowski, Susanne Lezius, et al.
Human Molecular Genetics
|
August 23, 2006
C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon
Chi-un Choe, Eric Schulze-Bahr, Axel Neu, et al.
Journal of Patient-Reported Outcomes
|
May 14, 2025
Quality of Life after Brain Injury in children aged six and seven years (QOLIBRI-KIDDY) - development and scale analysis of the first disease-specific self-report instrument for young children after traumatic brain injury
Nicole von Steinbuechel, Marina Zeldovich, Fabian Bockhop, et al.
Neurogenetics
|
October 28, 2017
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
Ruth I C Glasgow, Kyle Thompson, Inês A Barbosa, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation
|
December 3, 2024
Correction: A short scale to measure health-related quality of life after traumatic brain injury in children and adolescents (QOLIBRI-OS-KID/ADO): psychometric properties and German reference values
Marina Zeldovich, Leonie Krol, Inga K Koerte, et al.
Page
of 4