Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
Germain, Dominique P, Hughes, Derralynn A, Nicholls, Kathleen, Bichet, Daniel G, Giugliani, Roberto, Wilcox, William R, Feliciani, Claudio, Shankar, Suma P, Ezgu, Fatih, Amartino, Hernan, Bratkovic, Drago, Feldt-Rasmussen, Ulla, Nedd, Khan, Sharaf El Din, Usama, Lourenco, Charles M, Banikazemi, Maryam, Charrow, Joel, Dasouki, Majed, Finegold, David, Giraldo, Pilar, Goker-Alpan, Ozlem, Longo, Nicola, Scott, C. Ronald, Torra, Roser, Tuffaha, Ahmad, Jovanovic, Ana, Waldek, Stephen, Packman, Seymour, Ludington, Elizabeth, Viereck, Christopher, Kirk, John, Yu, Julie, Benjamin, Elfrida R, Johnson, Franklin, Lockhart, David J, Skuban, Nina, Castelli, Jeff, Barth, Jay, Barlow, Carrolee, Schiffmann, Raphael
Published in The New England journal of medicine (11.08.2016)
Published in The New England journal of medicine (11.08.2016)
Get full text
Journal Article
The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells
Tian, Weihua, Ye, Zilu, Wang, Shengjun, Schulz, Morten Alder, Van Coillie, Julie, Sun, Lingbo, Chen, Yen-Hsi, Narimatsu, Yoshiki, Hansen, Lars, Kristensen, Claus, Mandel, Ulla, Bennett, Eric Paul, Jabbarzadeh-Tabrizi, Siamak, Schiffmann, Raphael, Shen, Jin-Song, Vakhrushev, Sergey Y, Clausen, Henrik, Yang, Zhang
Published in Nature communications (30.04.2019)
Published in Nature communications (30.04.2019)
Get full text
Journal Article
Fabry Disease: A Disorder of Childhood Onset
Schiffmann, Raphael, M.D., M.H.Sc, Ries, Markus, M.D., Ph.D., M.H.Sc., FCP
Published in Pediatric neurology (01.11.2016)
Published in Pediatric neurology (01.11.2016)
Get full text
Journal Article
The definition of neuronopathic Gaucher disease
Schiffmann, Raphael, Sevigny, Jeff, Rolfs, Arndt, Davies, Elin Haf, Goker‐Alpan, Ozlem, Abdelwahab, Magy, Vellodi, Ashok, Mengel, Eugen, Lukina, Elena, Yoo, Han‐Wook, Collin‐Histed, Tanya, Narita, Aya, Dinur, Tama, Revel‐Vilk, Shoshana, Arkadir, David, Szer, Jeff, Wajnrajch, Michael, Ramaswami, Uma, Sidransky, Ellen, Donald, Aimee, Zimran, Ari
Published in Journal of inherited metabolic disease (01.09.2020)
Published in Journal of inherited metabolic disease (01.09.2020)
Get full text
Journal Article
Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200
Choquet, Karine, Forget, Diane, Meloche, Elisabeth, Dicaire, Marie-Josée, Bernard, Geneviève, Vanderver, Adeline, Schiffmann, Raphael, Fabian, Marc R., Teichmann, Martin, Coulombe, Benoit, Brais, Bernard, Kleinman, Claudia L.
Published in The Journal of biological chemistry (03.05.2019)
Published in The Journal of biological chemistry (03.05.2019)
Get full text
Journal Article
Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
Bichet, Daniel G., Aerts, Johannes M., Auray-Blais, Christiane, Maruyama, Hiroki, Mehta, Atul B., Skuban, Nina, Krusinska, Eva, Schiffmann, Raphael
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
Get full text
Journal Article
Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease
Zigdon, Hila, Savidor, Alon, Levin, Yishai, Meshcheriakova, Anna, Schiffmann, Raphael, Futerman, Anthony H
Published in PloS one (16.03.2015)
Published in PloS one (16.03.2015)
Get full text
Journal Article
Case definition and classification of leukodystrophies and leukoencephalopathies
Vanderver, Adeline, Prust, Morgan, Tonduti, Davide, Mochel, Fanny, Hussey, Heather M., Helman, Guy, Garbern, James, Eichler, Florian, Labauge, Pierre, Aubourg, Patrick, Rodriguez, Diana, Patterson, Marc C., Van Hove, Johan L.K., Schmidt, Johanna, Wolf, Nicole I., Boespflug-Tanguy, Odile, Schiffmann, Raphael, van der Knaap, Marjo S.
Published in Molecular genetics and metabolism (01.04.2015)
Published in Molecular genetics and metabolism (01.04.2015)
Get full text
Journal Article
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
Get full text
Journal Article
Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
Tétreault, Martine, Choquet, Karine, Orcesi, Simona, Tonduti, Davide, Balottin, Umberto, Teichmann, Martin, Fribourg, Sébastien, Schiffmann, Raphael, Brais, Bernard, Vanderver, Adeline, Bernard, Geneviève
Published in American journal of human genetics (11.11.2011)
Published in American journal of human genetics (11.11.2011)
Get full text
Journal Article
Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 mice
Mochel, Fanny, Durant, Brandon, Durr, Alexandra, Schiffmann, Raphael
Published in PloS one (31.03.2011)
Published in PloS one (31.03.2011)
Get full text
Journal Article
Randomized, controlled trial of miglustat in Gaucher's disease type 3
Schiffmann, Raphael, FitzGibbon, Edmond J., Harris, Chris, DeVile, Catherine, Davies, Elin H., Abel, Larry, Van Schaik, Ivo N., Benko, William S., Timmons, Margaret, Ries, Markus, Vellodi, Ashok
Published in Annals of neurology (01.11.2008)
Published in Annals of neurology (01.11.2008)
Get full text
Journal Article
Early Alterations of Brain Cellular Energy Homeostasis in Huntington Disease Models
Mochel, Fanny, Durant, Brandon, Meng, Xingli, O'Callaghan, James, Yu, Hua, Brouillet, Emmanuel, Wheeler, Vanessa C., Humbert, Sandrine, Schiffmann, Raphael, Durr, Alexandra
Published in The Journal of biological chemistry (06.01.2012)
Published in The Journal of biological chemistry (06.01.2012)
Get full text
Journal Article
Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model
Jabbarzadeh-Tabrizi, Siamak, Boutin, Michel, Day, Taniqua S., Taroua, Mouna, Schiffmann, Raphael, Auray-Blais, Christiane, Shen, Jin-Song
Published in Journal of lipid research (01.11.2020)
Published in Journal of lipid research (01.11.2020)
Get full text
Journal Article
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature
Potic, Ana, Perrier, Stefanie, Radovic, Tijana, Gavrilovic, Svetlana, Ostojic, Jelena, Tran, Luan T, Thiffault, Isabelle, Pastinen, Tomi, Schiffmann, Raphael, Bernard, Geneviève
Published in Orphanet journal of rare diseases (13.07.2023)
Published in Orphanet journal of rare diseases (13.07.2023)
Get full text
Journal Article
Agalsidase Alfa and Kidney Dysfunction in Fabry Disease
WEST, Michael, NICHOLLS, Kathy, SCHIFFMANN, Raphael, MEHTA, Atul, CLARKE, Joe T. R, STEINER, Robert, BECK, Michael, BARSHOP, Bruce A, RHEAD, William, MENSAH, Robert, RIES, Markus
Published in Journal of the American Society of Nephrology (01.05.2009)
Published in Journal of the American Society of Nephrology (01.05.2009)
Get full text
Journal Article
Optimizing human α-galactosidase for treatment of Fabry disease
Hallows, William C, Skvorak, Kristen, Agard, Nick, Kruse, Nikki, Zhang, Xiyun, Zhu, Yu, Botham, Rachel C, Chng, Chinping, Shukla, Charu, Lao, Jessica, Miller, Mathew, Sero, Antoinette, Viduya, Judy, Ismaili, Moulay Hicham Alaoui, McCluskie, Kerryn, Schiffmann, Raphael, Silverman, Adam P, Shen, Jin-Song, Huisman, Gjalt W
Published in Scientific reports (23.03.2023)
Published in Scientific reports (23.03.2023)
Get full text
Journal Article
Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
Bichet, Daniel G., Aerts, Johannes M., Auray-Blais, Christiane, Maruyama, Hiroki, Mehta, Atul B., Skuban, Nina, Krusinska, Eva, Schiffmann, Raphael
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
Get full text
Journal Article