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Annals of Neurology
|
January 31, 2025
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes
Ahmet Kaymak, Fabiana Colucci, Mahboubeh Ahmadipour, et al.
European Heart Journal
|
June 16, 2026
Genetic screening of children for familial hypercholesterolaemia: the VRONI study
Raphael S Schmieder, Lea D Schlieben, Artem Amosov, 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.
Annals of Neurology
|
January 30, 2022
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
Sarah L Stenton, Ying Zou, Hua Cheng, et al.
Communications Medicine
|
December 16, 2024
Interpretable multimodal machine learning (IMML) framework reveals pathological signatures of distal sensorimotor polyneuropathy
Phong B H Nguyen, Daniel Garger, Diyuan Lu, et al.
Brain : a Journal of Neurology
|
December 21, 2013
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
Matthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, et al.
American Journal of Human Genetics
|
December 30, 2019
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
Mirjana Gusic, Gudrun Schottmann, René G Feichtinger, et al.
Brain : a Journal of Neurology
|
October 9, 2010
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
Mike Gerards, Bianca J C van den Bosch, Katharina Danhauser, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Nicole Hammann, Christian Staufner, Lea Dewi Schlieben, et al.
Brain : a Journal of Neurology
|
April 12, 2012
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
Marjan E Steenweg, Daniele Ghezzi, Tobias Haack, et al.
Page
of 40
Search research articles
Search
Showing results (191-200 of 395) with videos related to
Sort By:
Page
of 40
Annals of Neurology
|
January 31, 2025
Spiking Patterns in the Globus Pallidus Highlight Convergent Neural Dynamics across Diverse Genetic Dystonia Syndromes
Ahmet Kaymak, Fabiana Colucci, Mahboubeh Ahmadipour, et al.
European Heart Journal
|
June 16, 2026
Genetic screening of children for familial hypercholesterolaemia: the VRONI study
Raphael S Schmieder, Lea D Schlieben, Artem Amosov, 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.
Annals of Neurology
|
January 30, 2022
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital
Sarah L Stenton, Ying Zou, Hua Cheng, et al.
Communications Medicine
|
December 16, 2024
Interpretable multimodal machine learning (IMML) framework reveals pathological signatures of distal sensorimotor polyneuropathy
Phong B H Nguyen, Daniel Garger, Diyuan Lu, et al.
Brain : a Journal of Neurology
|
December 21, 2013
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
Matthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, et al.
American Journal of Human Genetics
|
December 30, 2019
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
Mirjana Gusic, Gudrun Schottmann, René G Feichtinger, et al.
Brain : a Journal of Neurology
|
October 9, 2010
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene
Mike Gerards, Bianca J C van den Bosch, Katharina Danhauser, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Nicole Hammann, Christian Staufner, Lea Dewi Schlieben, et al.
Brain : a Journal of Neurology
|
April 12, 2012
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
Marjan E Steenweg, Daniele Ghezzi, Tobias Haack, et al.
Page
of 40