Zobrazeno 1 - 10
of 341
pro vyhledávání: '"Raphael Schiffmann"'
Autor:
Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
Abstract Background Neurodegeneration due to cerebral folate transport deficiency is a rare autosomal recessive disorder caused by biallelic pathogenic variants in FOLR1. Onset typically occurs in late infancy and is characterized by psychomotor regr
Externí odkaz:
https://doaj.org/article/069bc339519c472a91b38f2db7cff481
Autor:
William C. Hallows, Kristen Skvorak, Nick Agard, Nikki Kruse, Xiyun Zhang, Yu Zhu, Rachel C. Botham, Chinping Chng, Charu Shukla, Jessica Lao, Mathew Miller, Antoinette Sero, Judy Viduya, Moulay Hicham Alaoui Ismaili, Kerryn McCluskie, Raphael Schiffmann, Adam P. Silverman, Jin-Song Shen, Gjalt W. Huisman
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)
Abstract Fabry disease is caused by a deficiency of α-galactosidase A (GLA) leading to the lysosomal accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids. Fabry patients experience significant damage to the heart, kidney, and blo
Externí odkaz:
https://doaj.org/article/b25ba72e3abd48129972a8895661aad7
Autor:
Rebecca Koch, Claudia Soler-Alfonso, Bridget Kiely, Akihiro Asai, Ariana Smith, Deeksha Bali, Peter Kang, Andrew Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer Orthmann-Murphy, Deberah Goldman, Surekha Pendyal, Areeg El-Gharbawy, Stephanie Austin, Laura Case, Raphael Schiffmann, Michio Hirano, Priya Kishnani
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100114- (2023)
Externí odkaz:
https://doaj.org/article/193ab1baaba843d9bdec0a40ad755c5d
Autor:
Derralynn A Hughes, Raphael Schiffmann, Ales Linhart, Patricio Aguiar, Patrick B Deegan, Fatih Ezgu, Andrea Frustaci, Olivier Lidove, Jean-Claude Lubanda, Kathleen Nicholls, Dau-Ming Niu, Uma Ramaswami, Ricardo Reisin, Paula Rozenfeld, Einar Svarstad, Roser Torra, Bojan Vujkovac, Michael L West, Jack Johnson, Mark J Rolfe
Publikováno v:
BMJ Open, Vol 10, Iss 10 (2020)
Objectives The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may justify FD-specific treatmen
Externí odkaz:
https://doaj.org/article/d715f78e37c54b91a11df4c1b094fbaf
Autor:
Raphael Schiffmann, Daniel G. Bichet, Ana Jovanovic, Derralynn A. Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P. Shankar, Laura Barisoni, Robert B. Colvin, J. Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P. Castelli, Nina Skuban, Jay A. Barth, Kathleen Nicholls
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-7 (2018)
Abstract Background Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations. M
Externí odkaz:
https://doaj.org/article/5e779a69a2964f6c8462aa2e8b74ad76
Autor:
Hila Zigdon, Alon Savidor, Yishai Levin, Anna Meshcheriakova, Raphael Schiffmann, Anthony H Futerman
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0120194 (2015)
Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involve
Externí odkaz:
https://doaj.org/article/4caf1ee0f3f441fbb8d9637b8480f111
Autor:
Aurélia Huyghe, Laetitia Horzinski, Alain Hénaut, Marina Gaillard, Enrico Bertini, Raphael Schiffmann, Diana Rodriguez, Yann Dantal, Odile Boespflug-Tanguy, Anne Fogli
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e38264 (2012)
Leukodystrophies (LD) are rare inherited disorders that primarily affect the white matter (WM) of the central nervous system. The large heterogeneity of LD results from the diversity of the genetically determined defects that interfere with glial cel
Externí odkaz:
https://doaj.org/article/5be6a3cc0b9947c2b6c49ec84b1bb74c
Autor:
Anne Fogli, Christine Merle, Véronique Roussel, Raphael Schiffmann, Sylvie Ughetto, Manfred Theisen, Odile Boespflug-Tanguy
Publikováno v:
PLoS ONE, Vol 7, Iss 8, p e42688 (2012)
BACKGROUND: Primary or secondary abnormalities of glycosylation have been reported in various brain diseases. Decreased asialotransferrin to sialotransferrin ratio in cerebrospinal fluid (CSF) is a diagnostic marker of leukodystrophies related to mut
Externí odkaz:
https://doaj.org/article/5abe6e621d9a4d7a9e0a04d95c29d85b
Publikováno v:
PLoS ONE, Vol 6, Iss 3, p e18336 (2011)
The pattern of cerebral dopamine (DA) abnormalities in Huntington disease (HD) is complex, as reflected by the variable clinical benefit of both DA antagonists and agonists in treating HD symptoms. In addition, little is known about serotonin metabol
Externí odkaz:
https://doaj.org/article/0cd9c457b26f46e0aa919ef6e1d07d3c
Autor:
William Benko, Markus Ries, Edythe A Wiggs, Roscoe O Brady, Raphael Schiffmann, Edmond J Fitzgibbon
Publikováno v:
PLoS ONE, Vol 6, Iss 7, p e22410 (2011)
Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a
Externí odkaz:
https://doaj.org/article/55c3839f39284ea9aa73a9c2215683ed