Miglustat in Niemann-Pick disease type C patients: a review
Pineda, Mercè, Walterfang, Mark, Patterson, Marc C
Published in Orphanet journal of rare diseases (15.08.2018)
Published in Orphanet journal of rare diseases (15.08.2018)
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Journal Article
Neurological Aspects of Human Glycosylation Disorders
Freeze, Hudson H, Eklund, Erik A, Ng, Bobby G, Patterson, Marc C
Published in Annual review of neuroscience (08.07.2015)
Published in Annual review of neuroscience (08.07.2015)
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Journal Article
Disease and patient characteristics in NP-C patients: findings from an international disease registry
Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Published in Orphanet journal of rare diseases (16.01.2013)
Published in Orphanet journal of rare diseases (16.01.2013)
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Journal Article
Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update
Patterson, Marc C., Hendriksz, Christian J., Walterfang, Mark, Sedel, Frederic, Vanier, Marie T., Wijburg, Frits
Published in Molecular genetics and metabolism (01.07.2012)
Published in Molecular genetics and metabolism (01.07.2012)
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Journal Article
Conference Proceeding
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
Patterson, Marc C, FRACP, Vecchio, Darleen, Prady, Helena, Abel, Larry, PhD, Wraith, James E, FRCPCH
Published in Lancet neurology (01.09.2007)
Published in Lancet neurology (01.09.2007)
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Journal Article
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry
Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Moneuse, Patrick, Rosenberg, Daniel, Pineda, Mercedes
Published in Orphanet journal of rare diseases (25.04.2020)
Published in Orphanet journal of rare diseases (25.04.2020)
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Journal Article
Clinical, Radiologic, and Prognostic Features of Myelitis Associated With Myelin Oligodendrocyte Glycoprotein Autoantibody
Dubey, Divyanshu, Pittock, Sean J, Krecke, Karl N, Morris, Padraig P, Sechi, Elia, Zalewski, Nicholas L, Weinshenker, Brian G, Shosha, Eslam, Lucchinetti, Claudia F, Fryer, James P, Lopez-Chiriboga, A Sebastian, Chen, John C, Jitprapaikulsan, Jiraporn, McKeon, Andrew, Gadoth, Avi, Keegan, B Mark, Tillema, Jan-Mendelt, Naddaf, Elie, Patterson, Marc C, Messacar, Kevin, Tyler, Kenneth L, Flanagan, Eoin P
Published in Archives of neurology (Chicago) (01.03.2019)
Published in Archives of neurology (Chicago) (01.03.2019)
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Journal Article
Neurology of inherited glycosylation disorders
Freeze, Hudson H, Dr, Prof, Eklund, Erik A, MD, Ng, Bobby G, BS, Patterson, Marc C, Prof
Published in Lancet neurology (01.05.2012)
Published in Lancet neurology (01.05.2012)
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Journal Article
Secondary Narcolepsy in Children
Madan, Riya, Pitts, Jennifer, Patterson, Marc C, Lloyd, Robin, Keating, Gesina, Kotagal, Suresh
Published in Journal of child neurology (01.02.2021)
Published in Journal of child neurology (01.02.2021)
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Journal Article
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
Ng, Bobby G., Buckingham, Kati J., Raymond, Kimiyo, Kircher, Martin, Turner, Emily H., He, Miao, Smith, Joshua D., Eroshkin, Alexey, Szybowska, Marta, Losfeld, Marie E., Chong, Jessica X., Kozenko, Mariya, Li, Chumei, Patterson, Marc C., Gilbert, Rodney D., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.
Published in American journal of human genetics (04.04.2013)
Published in American journal of human genetics (04.04.2013)
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Journal Article
Lost in translation—Challenges in drug development for inherited metabolic diseases
Lachmann, Robin H., Patterson, Marc C., Sirrs, Sandra
Published in Journal of inherited metabolic disease (01.05.2022)
Published in Journal of inherited metabolic disease (01.05.2022)
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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)
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Journal Article
Free sialic acid storage disorder: Progress and promise
Huizing, Marjan, Hackbarth, Mary E., Adams, David R., Wasserstein, Melissa, Patterson, Marc C., Walkley, Steven U., Gahl, William A., Adams, David R., Dobrenis, Kostantin, Foglio, Jessica, Gahl, William A., Gasnier, Bruno, Hackbarth, Mary, Huizing, Marjan, Lek, Monkol, Malicdan, May C.V., Paavola, Liisa E., Patterson, Marc C., Reimer, Richard, Walkley, Steven U., Wasserstein, Melissa, Wang, Raymond Y., Zoncu, Roberto
Published in Neuroscience letters (11.06.2021)
Published in Neuroscience letters (11.06.2021)
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Journal Article
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Pant, Devesh C, Dorboz, Imen, Schluter, Agatha, Fourcade, Stéphane, Launay, Nathalie, Joya, Javier, Aguilera-Albesa, Sergio, Yoldi, Maria Eugenia, Casasnovas, Carlos, Willis, Mary J, Ruiz, Montserrat, Ville, Dorothée, Lesca, Gaetan, Siquier-Pernet, Karine, Desguerre, Isabelle, Yan, Huifang, Wang, Jingmin, Burmeister, Margit, Brady, Lauren, Tarnopolsky, Mark, Cornet, Carles, Rubbini, Davide, Terriente, Javier, James, Kiely N, Musaev, Damir, Zaki, Maha S, Patterson, Marc C, Lanpher, Brendan C, Klee, Eric W, Pinto E Vairo, Filippo, Wohler, Elizabeth, Sobreira, Nara Lygia de M, Cohen, Julie S, Maroofian, Reza, Galehdari, Hamid, Mazaheri, Neda, Shariati, Gholamreza, Colleaux, Laurence, Rodriguez, Diana, Gleeson, Joseph G, Pujades, Cristina, Fatemi, Ali, Boespflug-Tanguy, Odile, Pujol, Aurora
Published in The Journal of clinical investigation (01.03.2019)
Published in The Journal of clinical investigation (01.03.2019)
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Journal Article
Current directions in tau research: Highlights from Tau 2020
Sexton, Claire, Snyder, Heather, Beher, Dirk, Boxer, Adam L., Brannelly, Pat, Brion, Jean‐Pierre, Buée, Luc, Cacace, Angela M., Chételat, Gaël, Citron, Martin, DeVos, Sarah L., Diaz, Kristophe, Feldman, Howard H., Frost, Bess, Goate, Alison M., Gold, Michael, Hyman, Bradley, Johnson, Keith, Karch, Celeste M., Kerwin, Diana R., Koroshetz, Walter J., Litvan, Irene, Morris, Huw R., Mummery, Catherine J., Mutamba, James, Patterson, Marc C., Quiroz, Yakeel T., Rabinovici, Gil D., Rommel, Amy, Shulman, Melanie B., Toledo‐Sherman, Leticia M., Weninger, Stacie, Wildsmith, Kristin R., Worley, Susan L., Carrillo, Maria C.
Published in Alzheimer's & dementia (01.05.2022)
Published in Alzheimer's & dementia (01.05.2022)
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Journal Article
Consensus clinical management guidelines for Niemann-Pick disease type C
Geberhiwot, Tarekegn, Moro, Alessandro, Dardis, Andrea, Ramaswami, Uma, Sirrs, Sandra, Marfa, Mercedes Pineda, Vanier, Marie T, Walterfang, Mark, Bolton, Shaun, Dawson, Charlotte, Héron, Bénédicte, Stampfer, Miriam, Imrie, Jackie, Hendriksz, Christian, Gissen, Paul, Crushell, Ellen, Coll, Maria J, Nadjar, Yann, Klünemann, Hans, Mengel, Eugen, Hrebicek, Martin, Jones, Simon A, Ory, Daniel, Bembi, Bruno, Patterson, Marc
Published in Orphanet journal of rare diseases (06.04.2018)
Published in Orphanet journal of rare diseases (06.04.2018)
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Journal Article
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update
Patterson, Marc C, Clayton, Peter, Gissen, Paul, Anheim, Mathieu, Bauer, Peter, Bonnot, Olivier, Dardis, Andrea, Dionisi-Vici, Carlo, Klünemann, Hans-Hermann, Latour, Philippe, Lourenço, Charles M, Ory, Daniel S, Parker, Alasdair, Pocoví, Miguel, Strupp, Michael, Vanier, Marie T, Walterfang, Mark, Marquardt, Thorsten
Published in Neurology. Clinical practice (01.12.2017)
Published in Neurology. Clinical practice (01.12.2017)
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Journal Article