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Search Results - Coppel, Scott H.
Search Results - Coppel, Scott H.
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Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
by
Lojewski, Xenia
,
Staropoli, John F
,
Biswas-Legrand, Sunita
,
Simas, Alexandra M
,
Haliw, Larissa
,
Selig, Martin K
,
Coppel, Scott H
,
Goss, Kendrick A
,
Petcherski, Anton
,
Chandrachud, Uma
,
Sheridan, Steven D
,
Lucente, Diane
,
Sims, Katherine B
,
Gusella, James F
,
Sondhi, Dolan
,
Crystal, Ronald G
,
Reinhardt, Peter
,
Sterneckert, Jared
,
Schöler, Hans
,
Haggarty, Stephen J
,
Storch, Alexander
,
Hermann, Andreas
,
Cotman, Susan L
Published in
Human molecular genetics
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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System
by
Staropoli, John F.
,
Karaa, Amel
,
Lim, Elaine T.
,
Kirby, Andrew
,
Elbalalesy, Naser
,
Romansky, Stephen G.
,
Leydiker, Karen B.
,
Coppel, Scott H.
,
Barone, Rosemary
,
Xin, Winnie
,
MacDonald, Marcy E.
,
Abdenur, Jose E.
,
Daly, Mark J.
,
Sims, Katherine B.
,
Cotman, Susan L.
Published in
American journal of human genetics
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Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families
by
Velinov, Milen
,
Dolzhanskaya, Natalia
,
Gonzalez, Michael
,
Powell, Eric
,
Konidari, Ioanna
,
Hulme, William
,
Staropoli, John F
,
Xin, Winnie
,
Wen, Guang Y
,
Barone, Rosemary
,
Coppel, Scott H
,
Sims, Katherine
,
Brown, W Ted
,
Züchner, Stephan
Published in
PloS one
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Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families
by
Velinov, Milen
,
Dolzhanskaya, Natalia
,
Gonzalez, Michael
,
Powell, Eric
,
Konidari, Ioanna
,
Hulme, William
,
Staropoli, John F.
,
Xin, Winnie
,
Wen, Guang Y.
,
Barone, Rosemary
,
Coppel, Scott H.
,
Sims, Katherine
,
Brown, W. Ted
,
Züchner, Stephan
Published in
PloS one
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Correction: Mutations in the Gene Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families
by
Milen Velinov
,
Natalia Dolzhanskaya
,
Michael Gonzalez
,
Eric Powell
,
Ioanna Konidari
,
William Hulme
,
John F. Staropoli
,
Winnie Xin
,
Guang Y. Wen
,
Rosemary Barone
,
Scott H. Coppel
,
Katherine Sims
,
W. Ted Brown
,
Stephan Züchner
Published in
PloS one
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