Myotonic Dystrophy: RNA Pathogenesis Comes into Focus

Por Ranum, Laura P. W., Day, John W.
Publicado em 2004

Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise

Por Chamberlain, Christopher M., Ranum, Laura P.W.
Publicado em 2012

Molecular Genetic Advances in Neurological Disease: Special Review Issue

Por La Spada, Albert, Ranum, Laura P.W.
Publicado em 2010

Repeat-associated non-ATG (RAN) translation in neurological disease

Por Cleary, John D., Ranum, Laura P.W.
Publicado em 2013

Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders

Por Cleary, John Douglas, Ranum, Laura P.W.
Publicado no Curr Opin Genet Dev (2014)

New developments in RAN translation: insights from multiple diseases

Por Cleary, John Douglas, Ranum, Laura P.W.
Publicado no Curr Opin Genet Dev (2017)

Repeat-Associated Non-ATG Translation in Neurological Diseases

Por Zu, Tao, Pattamatta, Amrutha, Ranum, Laura P.W.
Publicado no Cold Spring Harb Perspect Biol (2018)

All in the family: repeats and ALS/FTD

Por Pattamatta, Amrutha, Cleary, John D., Ranum, Laura P.W.
Publicado no Trends Neurosci (2018)

Repeat-associated non-ATG (RAN) translation

Por Cleary, John Douglas, Pattamatta, Amrutha, Ranum, Laura P. W.
Publicado no J Biol Chem (2018)

Repeat Associated Non-ATG translation: molecular mechanisms and contribution to neurologic disease

Por Nguyen, Lien, Cleary, John Douglas, Ranum, Laura P.W.
Publicado no Annu Rev Neurosci (2019)

Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila

Por Lorenzo, Damaris N., Li, Min-gang, Mische, Sarah E., Armbrust, Karen R., Ranum, Laura P. W., Hays, Thomas S.
Publicado em 2010

Genome Modification Leads to Phenotype Reversal in Human Myotonic Dystrophy type 1 iPS-cell Derived Neural Stem Cells

Por Xia, Guangbin, Gao, Yuanzheng, Jin, Shouguang, Subramony, SH., Terada, Naohiro, Ranum, Laura P.W., Swanson, Maurice S., Ashizawa, Tetsuo
Publicado no Stem Cells (2015)

Altered levels of the splicing factor muscleblind modifies cerebral cortical function in mouse models of myotonic dystrophy

Por Chen, Gang, Carter, Russell E., Cleary, John D., Reid, Tammy S., Ranum, Laura P., Swanson, Maurice S., Ebner, Timothy J.
Publicado no Neurobiol Dis (2018)

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

Por Daughters, Randy S., Tuttle, Daniel L., Gao, Wangcai, Ikeda, Yoshio, Moseley, Melinda L., Ebner, Timothy J., Swanson, Maurice S., Ranum, Laura P. W.
Publicado em 2009

Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract

Por Liquori, Christina L., Ikeda, Yoshio, Weatherspoon, Marcy, Ricker, Kenneth, Schoser, Benedikt G. H., Dalton, Joline C., Day, John W., Ranum, Laura P. W.
Publicado em 2003

Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype

Por Coenen, Marieke J H, Tieleman, Alide A, Schijvenaars, Mascha M V A P, Leferink, Maike, Ranum, Laura P W, Scheffer, Hans, van Engelen, Baziel G M
Publicado em 2011

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

Por Figueroa, Karla P., Waters, Michael F., Garibyan, Vartan, Bird, Thomas D., Gomez, Christopher M., Ranum, Laura P. W., Minassian, Natali A., Papazian, Diane M., Pulst, Stefan M.
Publicado em 2011

SNP Haplotype Mapping in a Small ALS Family

Por Krueger, Katherine A. Dick, Tsuji, Shoji, Fukuda, Yoko, Takahashi, Yuji, Goto, Jun, Mitsui, Jun, Ishiura, Hiroyuki, Dalton, Joline C., Miller, Michael B., Day, John W., Ranum, Laura P. W.
Publicado em 2009

Mutant β-III Spectrin Causes mGluR1α Mislocalization and Functional Deficits in a Mouse Model of Spinocerebellar Ataxia Type 5

Por Armbrust, Karen R., Wang, Xinming, Hathorn, Tyisha J., Cramer, Samuel W., Chen, Gang, Zu, Tao, Kangas, Takashi, Zink, Anastasia N., Öz, Gülin, Ebner, Timothy J., Ranum, Laura P. W.
Publicado em 2014

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2

Por Zu, Tao, Cleary, John D., Liu, Yuanjing, Bañez-Coronel, Monica, Bubenik, Jodi L., Ayhan, Fatma, Ashizawa, Tetsuo, Xia, Guangbin, Clark, H. Brent, Yachnis, Anthony T., Swanson, Maurice S., Ranum, Laura P.W.
Publicado no Neuron (2017)