Search research articles
Contact Us
Filters
Showing results (101-110 of 116) with videos related to
Page
of 12
Sort By:
European Journal of Neurology
|
May 20, 2025
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions
Federica Feo, Luciana Tramacere, Silvia Ramat, et al.
Human Mutation
|
August 13, 2021
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
Alessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, et al.
Stem Cell Research
|
December 20, 2025
Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene
Ana Lucia Cuadros Gamboa, Filippo Chiesa, Paride Pelucchi, et al.
Cerebellum (London, England)
|
February 23, 2021
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
Fabio Pettinato, Giovanni Mostile, Roberta Battini, et al.
Scientific Reports
|
November 29, 2019
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content
Rodolfo Tonin, Anna Caciotti, Elena Procopio, et al.
Stem Cell Research
|
April 14, 2022
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene
Ana Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, et al.
Molecular Genetics and Metabolism
|
April 12, 2026
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden
Sabrina Malvagia, Marta Daniotti, Rodolfo Tonin, et al.
Molecular Therapy. Methods & Clinical Development
|
September 16, 2024
A <i>GLB1</i> transgene with enhanced therapeutic potential for the preclinical development of <i>ex-vivo</i> gene therapy to treat mucopolysaccharidosis type IVB
Stefania Crippa, Gaia Alberti, Laura Passerini, et al.
Clinical Epigenetics
|
April 20, 2022
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>
Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, et al.
Clinical Epigenetics
|
July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
Catia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.
Page
of 12
Search research articles
Search
Showing results (101-110 of 116) with videos related to
Sort By:
Page
of 12
European Journal of Neurology
|
May 20, 2025
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions
Federica Feo, Luciana Tramacere, Silvia Ramat, et al.
Human Mutation
|
August 13, 2021
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
Alessandra Zanetti, Francesca D'Avanzo, Moeenaldeen AlSayed, et al.
Stem Cell Research
|
December 20, 2025
Generation of iPSC lines (UMILi032-A, UMILi033-A, UMILi034-A, UMILi035-A, UMILi036-A) from five Congenital Central Hypoventilation Syndrome patients carrying different poly-alanine expansion mutations in the PHOX2B gene
Ana Lucia Cuadros Gamboa, Filippo Chiesa, Paride Pelucchi, et al.
Cerebellum (London, England)
|
February 23, 2021
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
Fabio Pettinato, Giovanni Mostile, Roberta Battini, et al.
Scientific Reports
|
November 29, 2019
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content
Rodolfo Tonin, Anna Caciotti, Elena Procopio, et al.
Stem Cell Research
|
April 14, 2022
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene
Ana Lucia Cuadros Gamboa, Roberta Benfante, Monica Nizzardo, et al.
Molecular Genetics and Metabolism
|
April 12, 2026
Over ten years of newborn screening for LSDs in Tuscany (Italy): Epidemiology, novel variants, and the pseudodeficiency burden
Sabrina Malvagia, Marta Daniotti, Rodolfo Tonin, et al.
Molecular Therapy. Methods & Clinical Development
|
September 16, 2024
A <i>GLB1</i> transgene with enhanced therapeutic potential for the preclinical development of <i>ex-vivo</i> gene therapy to treat mucopolysaccharidosis type IVB
Stefania Crippa, Gaia Alberti, Laura Passerini, et al.
Clinical Epigenetics
|
April 20, 2022
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>
Abderrahim Oussalah, Youssef Siblini, Sébastien Hergalant, et al.
Clinical Epigenetics
|
July 3, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations
Catia Cavicchi, Abderrahim Oussalah, Silvia Falliano, et al.
Page
of 12