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Journal of Clinical Immunology
|
August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Dominic Lenz, Jens Pahl, Fabian Hauck, et al.
Neurology
|
March 20, 2025
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8
Sara Carli, Anna Levarlet, Daria Diodato, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Autophagy
|
September 29, 2024
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in <i>Drosophila</i> and Vici syndrome patients
Celine Deneubourg, Hormos Salimi Dafsari, Simon Lowe, et al.
Brain : a Journal of Neurology
|
November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course
Alessandro Esposito, Antonio Falace, Matias Wagner, et al.
European Journal of Neurology
|
April 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements
Michelangelo Mancuso, Marcello Bellusci, Valerio Carelli, et al.
Neuropediatrics
|
June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum
Bader Alhaddad, Anna Schossig, Tobias B Haack, et al.
Journal of Inherited Metabolic Disease
|
April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
Martina Huemer, Daniela Karall, Anna Schossig, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 4, 2023
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence
Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
June 26, 2026
Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo
Tian Sun, Nicole Hammann, Lina Leghlam, et al.
Page
of 16
Search research articles
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Showing results (101-110 of 151) with videos related to
Sort By:
Page
of 16
Journal of Clinical Immunology
|
August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Dominic Lenz, Jens Pahl, Fabian Hauck, et al.
Neurology
|
March 20, 2025
Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8
Sara Carli, Anna Levarlet, Daria Diodato, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Matias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Autophagy
|
September 29, 2024
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in <i>Drosophila</i> and Vici syndrome patients
Celine Deneubourg, Hormos Salimi Dafsari, Simon Lowe, et al.
Brain : a Journal of Neurology
|
November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course
Alessandro Esposito, Antonio Falace, Matias Wagner, et al.
European Journal of Neurology
|
April 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements
Michelangelo Mancuso, Marcello Bellusci, Valerio Carelli, et al.
Neuropediatrics
|
June 26, 2018
PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum
Bader Alhaddad, Anna Schossig, Tobias B Haack, et al.
Journal of Inherited Metabolic Disease
|
April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
Martina Huemer, Daniela Karall, Anna Schossig, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 4, 2023
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence
Luisa Averdunk, Maxim A Huetzen, Daniel Moreno-Andrés, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
June 26, 2026
Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo
Tian Sun, Nicole Hammann, Lina Leghlam, et al.
Page
of 16