Brave New World

Por Patterson, Marc C.
Publicado no Child Neurol Open (2014)

Unraveling the sterol-trafficking defect in Niemann-Pick C disease

Por Sturley, Stephen L., Patterson, Marc C., Pentchev, Peter
Publicado em 2009

NEUROLOGICAL ASPECTS OF HUMAN GLYCOSYLATION DISORDERS

Por Freeze, Hudson H., Eklund, Erik A., Ng, Bobby G., Patterson, Marc C.
Publicado no Annu Rev Neurosci (2015)

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

Por Walterfang, Mark, Chien, Yin-Hsiu, Imrie, Jackie, Rushton, Derren, Schubiger, Danielle, Patterson, Marc C
Publicado em 2012

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort...

Por Patterson, Marc C, Mengel, Eugen, Vanier, Marie T, Schwierin, Barbara, Muller, Audrey, Cornelisse, Peter, Pineda, Mercè
Publicado no Orphanet J Rare Dis (2015)

Disease and patient characteristics in NP-C patients: findings from an international disease registry

Por Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Publicado em 2013

Correction: Disease and patient characteristics in NP-C patients: findings from an international disease registry

Por Patterson, Marc C, Mengel, Eugen, Wijburg, Frits A, Muller, Audrey, Schwierin, Barbara, Drevon, Harir, Vanier, Marie T, Pineda, Mercé
Publicado em 2013

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Por Kim, Soohyun, Westphal, Vibeke, Srikrishna, Geetha, Mehta, Darshini P., Peterson, Sandra, Filiano, James, Karnes, Pamela S., Patterson, Marc C., Freeze, Hudson H.
Publicado em 2000

Mutation causing congenital myasthenia reveals acetylcholine receptor β/δ subunit interaction essential for assembly

Por Quiram, Polly A., Ohno, Kinji, Milone, Margherita, Patterson, Marc C., Pruitt, Ned J., Brengman, Joan M., Sine, Steven M., Engel, Andrew G.
Publicado em 1999

The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings

Por Gozes, Illana, Patterson, Marc C., Van Dijck, Anke, Kooy, R. Frank, Peeden, Joseph N., Eichenberger, Jacob A., Zawacki-Downing, Angela, Bedrosian-Sermone, Sandra
Publicado no Front Endocrinol (Lausanne) (2017)

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations

Por Wraith, James E., Sedel, Frédéric, Pineda, Mercèdes, Wijburg, Frits A., Hendriksz, Christian J., Fahey, Michael, Walterfang, Mark, Patterson, Marc C., Chadha-Boreham, Harbajan, Kolb, Stefan A.
Publicado em 2013

Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1

Por Sun, Xiaofeng, Marks, David L., Park, Walter D., Wheatley, Christine L., Puri, Vishwajeet, O’Brien, John F., Kraft, Daniel L., Lundquist, Patrick A., Patterson, Marc C., Pagano, Richard E., Snow, Karen
Publicado em 2001

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic

Por Boczek, Nicole J., Sigafoos, Ashley N., Zimmermann, Michael T., Maus, Rachel L., Cousin, Margot A., Blackburn, Patrick R., Urrutia, Raul, Clark, Karl J., Patterson, Marc C., Wick, Myra J., Klee, Eric W.
Publicado no Clin Case Rep (2016)

Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings

Por Bremova-Ertl, Tatiana, Schiffmann, Raphael, Patterson, Marc C., Belmatoug, Nadia, Billette de Villemeur, Thierry, Bardins, Stanislavs, Frenzel, Claudia, Malinová, Věra, Naumann, Silvia, Arndt, Juliane, Mengel, Eugen, Reinke, Jörg, Strobl, Ralf, Strupp, Michael
Publicado no Front Neurol (2018)

Linear Clinical Progression, Independent of Age of Onset, in Niemann-Pick Disease, type C

Por Yanjanin, Nicole M., Vélez, Jorge I., Gropman, Andrea, King, Kelly, Bianconi, Simona E., Conley, Sandra K., Brewer, Carmen C., Solomon, Beth, Pavan, William J., Arcos-Burgos, Mauricio, Patterson, Marc C., Porter, Forbes D.
Publicado em 2010

Genetic screening for Niemann–Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

Por Bauer, Peter, Balding, David J., Klünemann, Hans H., Linden, David E. J., Ory, Daniel S., Pineda, Mercè, Priller, Josef, Sedel, Frederic, Muller, Audrey, Chadha-Boreham, Harbajan, Welford, Richard W. D., Strasser, Daniel S., Patterson, Marc C.
Publicado em 2013

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Por Parikh, Sumit, Bernard, Geneviève, Leventer, Richard J., van der Knaap, Marjo S., van Hove, Johan, Pizzino, Amy, McNeill, Nathan H., Helman, Guy, Simons, Cas, Schmidt, Johanna L., Rizzo, William B., Patterson, Marc C., Taft, Ryan J., Vanderver, Adeline
Publicado no Mol Genet Metab (2014)

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update

Por 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
Publicado no Neurol Clin Pract (2017)

Case Definition and Classification of Leukodystrophies and Leukoencephalopathies

Por 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.
Publicado no Mol Genet Metab (2015)

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

Por 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.
Publicado em 2013