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Journal of Neuroinflammation
|
December 30, 2019
Unique molecular signature in mucolipidosis type IV microglia
Antony Cougnoux, Rebecca A Drummond, Mason Fellmeth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 18, 2013
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa
Raphael Schiffmann, Markus Ries, Derek Blankenship, et al.
Journal of the American Heart Association
|
February 6, 2014
Risk of death in heart disease is associated with elevated urinary globotriaosylceramide
Raphael Schiffmann, Sabrina Forni, Caren Swift, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
November 6, 2015
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency
Fanny Mochel, Elodie Hainque, Domitille Gras, et al.
Pediatrics
|
February 17, 2005
Pediatric Fabry disease
Markus Ries, Surya Gupta, David F Moore, et al.
DNA Repair
|
October 29, 2008
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms
Sikandar G Khan, Kyu-Seon Oh, Steffen Emmert, et al.
Human Molecular Genetics
|
October 4, 2017
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes
Julian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, et al.
Human Molecular Genetics
|
February 4, 2017
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease
Jin-Song Shen, Erland Arning, Michael L West, et al.
CNS Neuroscience & Therapeutics
|
February 15, 2024
GDF15 is a dynamic biomarker of the integrated stress response in the central nervous system
Jyoti Asundi, Chunlian Zhang, Diana Donnelly-Roberts, et al.
Molecular Genetics and Metabolism
|
May 20, 2026
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis
Pamela Kell, Sonali Mishra, Precilla D'Souza, et al.
Page
of 23
Search research articles
Search
Showing results (171-180 of 225) with videos related to
Sort By:
Page
of 23
Journal of Neuroinflammation
|
December 30, 2019
Unique molecular signature in mucolipidosis type IV microglia
Antony Cougnoux, Rebecca A Drummond, Mason Fellmeth, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 18, 2013
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa
Raphael Schiffmann, Markus Ries, Derek Blankenship, et al.
Journal of the American Heart Association
|
February 6, 2014
Risk of death in heart disease is associated with elevated urinary globotriaosylceramide
Raphael Schiffmann, Sabrina Forni, Caren Swift, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
November 6, 2015
Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency
Fanny Mochel, Elodie Hainque, Domitille Gras, et al.
Pediatrics
|
February 17, 2005
Pediatric Fabry disease
Markus Ries, Surya Gupta, David F Moore, et al.
DNA Repair
|
October 29, 2008
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms
Sikandar G Khan, Kyu-Seon Oh, Steffen Emmert, et al.
Human Molecular Genetics
|
October 4, 2017
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes
Julian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, et al.
Human Molecular Genetics
|
February 4, 2017
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease
Jin-Song Shen, Erland Arning, Michael L West, et al.
CNS Neuroscience & Therapeutics
|
February 15, 2024
GDF15 is a dynamic biomarker of the integrated stress response in the central nervous system
Jyoti Asundi, Chunlian Zhang, Diana Donnelly-Roberts, et al.
Molecular Genetics and Metabolism
|
May 20, 2026
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis
Pamela Kell, Sonali Mishra, Precilla D'Souza, et al.
Page
of 23