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American Journal of Medical Genetics. Part A
|
March 3, 2009
Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS
Mahsa Mehrazin, Sara Shanske, Petra Kaufmann, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2004
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis
Sara Shanske, Jacklyn Pancrudo, Petra Kaufmann, et al.
Epilepsy Research
|
January 25, 2015
Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency
Cigdem Inan Akman, Frank Provenzano, Dong Wang, et al.
Annals of Clinical and Translational Neurology
|
September 12, 2025
Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data
Ian W McKeague, Kristin Engelstad, Yue Ge, et al.
Human Molecular Genetics
|
February 25, 2006
A mouse model for Glut-1 haploinsufficiency
Dong Wang, Juan M Pascual, Hong Yang, et al.
Archives of Neurology
|
August 11, 2010
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation
Timothy Parsons, Louis Weimer, Kristin Engelstad, et al.
Child Neurology Open
|
May 16, 2017
A De Novo Mutation in <i>MTND6</i> Causes Generalized Dystonia in 2 Unrelated Children
Yasemin Gulcan Kurt, Jorida Çoku, H Orhan Akman, et al.
Annals of Clinical and Translational Neurology
|
October 6, 2021
Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Atif Towheed, Christian L Hietanen, Vasudeva G Kamath, et al.
Journal of Inherited Metabolic Disease
|
December 28, 2020
Regulatory environment for novel therapeutic development in mitochondrial diseases
Michio Hirano, Andres Berardo, Emanuele Barca, et al.
Neurobiology of Disease
|
July 14, 2009
Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis
Paivi M Ullner, Alessia Di Nardo, James E Goldman, et al.
Page
of 5
Search research articles
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Showing results (21-30 of 47) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
March 3, 2009
Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS
Mahsa Mehrazin, Sara Shanske, Petra Kaufmann, et al.
American Journal of Medical Genetics. Part A
|
September 17, 2004
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis
Sara Shanske, Jacklyn Pancrudo, Petra Kaufmann, et al.
Epilepsy Research
|
January 25, 2015
Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency
Cigdem Inan Akman, Frank Provenzano, Dong Wang, et al.
Annals of Clinical and Translational Neurology
|
September 12, 2025
Assessing a Mitochondrial Disease Treatment via a Novel Statistical Technique for Accelerometer Data
Ian W McKeague, Kristin Engelstad, Yue Ge, et al.
Human Molecular Genetics
|
February 25, 2006
A mouse model for Glut-1 haploinsufficiency
Dong Wang, Juan M Pascual, Hong Yang, et al.
Archives of Neurology
|
August 11, 2010
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation
Timothy Parsons, Louis Weimer, Kristin Engelstad, et al.
Child Neurology Open
|
May 16, 2017
A De Novo Mutation in <i>MTND6</i> Causes Generalized Dystonia in 2 Unrelated Children
Yasemin Gulcan Kurt, Jorida Çoku, H Orhan Akman, et al.
Annals of Clinical and Translational Neurology
|
October 6, 2021
Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Atif Towheed, Christian L Hietanen, Vasudeva G Kamath, et al.
Journal of Inherited Metabolic Disease
|
December 28, 2020
Regulatory environment for novel therapeutic development in mitochondrial diseases
Michio Hirano, Andres Berardo, Emanuele Barca, et al.
Neurobiology of Disease
|
July 14, 2009
Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis
Paivi M Ullner, Alessia Di Nardo, James E Goldman, et al.
Page
of 5