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JAMA Neurology
|
February 10, 2015
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease
H Orhan Akman, Or Kakhlon, Jorida Coku, et al.
Annals of Neurology
|
December 19, 2003
Insertion of mutant proteolipid protein results in missorting of myelin proteins
Catherine Vaurs-Barriere, Kondi Wong, Thais D Weibel, et al.
Brain : a Journal of Neurology
|
February 1, 2013
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration
Mariam B Totonchy, Deborah Tamura, Matthew S Pantell, et al.
American Journal of Human Genetics
|
August 23, 2011
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy
Geneviève Bernard, Eliane Chouery, Maria Lisa Putorti, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2018
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Raphael Schiffmann, Daniel G Bichet, Ana Jovanovic, et al.
The FEBS Journal
|
February 13, 2010
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
Richie Khanna, Elfrida R Benjamin, Lee Pellegrino, et al.
Brain : a Journal of Neurology
|
May 3, 2014
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation
Eline M Hamilton, Emiel Polder, Adeline Vanderver, et al.
Nature Communications
|
May 2, 2019
The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells
Weihua Tian, Zilu Ye, Shengjun Wang, et al.
Neurology. Genetics
|
February 7, 2022
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion
Marjo S van der Knaap, Joshua L Bonkowsky, Adeline Vanderver, et al.
Annals of Neurology
|
June 27, 2009
Free sialic acid storage disease without sialuria
Fanny Mochel, Bingzhi Yang, Julie Barritault, et al.
Page
of 23
Search research articles
Search
Showing results (181-190 of 225) with videos related to
Sort By:
Page
of 23
JAMA Neurology
|
February 10, 2015
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease
H Orhan Akman, Or Kakhlon, Jorida Coku, et al.
Annals of Neurology
|
December 19, 2003
Insertion of mutant proteolipid protein results in missorting of myelin proteins
Catherine Vaurs-Barriere, Kondi Wong, Thais D Weibel, et al.
Brain : a Journal of Neurology
|
February 1, 2013
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration
Mariam B Totonchy, Deborah Tamura, Matthew S Pantell, et al.
American Journal of Human Genetics
|
August 23, 2011
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy
Geneviève Bernard, Eliane Chouery, Maria Lisa Putorti, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2018
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
Raphael Schiffmann, Daniel G Bichet, Ana Jovanovic, et al.
The FEBS Journal
|
February 13, 2010
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase
Richie Khanna, Elfrida R Benjamin, Lee Pellegrino, et al.
Brain : a Journal of Neurology
|
May 3, 2014
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation
Eline M Hamilton, Emiel Polder, Adeline Vanderver, et al.
Nature Communications
|
May 2, 2019
The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells
Weihua Tian, Zilu Ye, Shengjun Wang, et al.
Neurology. Genetics
|
February 7, 2022
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion
Marjo S van der Knaap, Joshua L Bonkowsky, Adeline Vanderver, et al.
Annals of Neurology
|
June 27, 2009
Free sialic acid storage disease without sialuria
Fanny Mochel, Bingzhi Yang, Julie Barritault, et al.
Page
of 23