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Neurology
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October 10, 2014
Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology
Joshua Hersheson, Derek Burke, Robert Clayton, et al.
Molecular Therapy. Methods & Clinical Development
|
October 27, 2021
Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys
Julien Baruteau, Sharon C Cunningham, Berna Seker Yilmaz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 13, 2013
Movement disorders in adult patients with classical galactosemia
Ignacio Rubio-Agusti, Miryam Carecchio, Kailash P Bhatia, et al.
Analytical Chemistry
|
November 6, 2015
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI
Wendy E Heywood, Stephane Camuzeaux, Ivan Doykov, et al.
Molecular Therapy. Methods & Clinical Development
|
August 11, 2020
Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease
Giuseppa Piras, Claudia Montiel-Equihua, Yee-Ka Agnes Chan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
August 10, 2020
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis
Elena R Schiff, Malena Daich Varela, Anthony G Robson, et al.
Molecular Genetics and Metabolism
|
August 25, 2016
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
Michael Fietz, Moeenaldeen AlSayed, Derek Burke, et al.
Analytical Chemistry
|
August 8, 2017
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy
Matthew P Wilson, Emma J Footitt, Apostolos Papandreou, et al.
Human Molecular Genetics
|
September 18, 2015
Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death
Marcus Keatinge, Hai Bui, Aswin Menke, et al.
Nature Medicine
|
July 18, 2018
Fetal gene therapy for neurodegenerative disease of infants
Giulia Massaro, Citra N Z Mattar, Andrew M S Wong, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 43) with videos related to
Sort By:
Page
of 5
Neurology
|
October 10, 2014
Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology
Joshua Hersheson, Derek Burke, Robert Clayton, et al.
Molecular Therapy. Methods & Clinical Development
|
October 27, 2021
Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys
Julien Baruteau, Sharon C Cunningham, Berna Seker Yilmaz, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
February 13, 2013
Movement disorders in adult patients with classical galactosemia
Ignacio Rubio-Agusti, Miryam Carecchio, Kailash P Bhatia, et al.
Analytical Chemistry
|
November 6, 2015
Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI
Wendy E Heywood, Stephane Camuzeaux, Ivan Doykov, et al.
Molecular Therapy. Methods & Clinical Development
|
August 11, 2020
Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease
Giuseppa Piras, Claudia Montiel-Equihua, Yee-Ka Agnes Chan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
August 10, 2020
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis
Elena R Schiff, Malena Daich Varela, Anthony G Robson, et al.
Molecular Genetics and Metabolism
|
August 25, 2016
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
Michael Fietz, Moeenaldeen AlSayed, Derek Burke, et al.
Analytical Chemistry
|
August 8, 2017
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy
Matthew P Wilson, Emma J Footitt, Apostolos Papandreou, et al.
Human Molecular Genetics
|
September 18, 2015
Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death
Marcus Keatinge, Hai Bui, Aswin Menke, et al.
Nature Medicine
|
July 18, 2018
Fetal gene therapy for neurodegenerative disease of infants
Giulia Massaro, Citra N Z Mattar, Andrew M S Wong, et al.
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of 5