Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae

ανά Gillespie, Abby, Gabunilas, Jason, Jen, Joanna C., Chanfreau, Guillaume F.
Τόπος έκδοσης RNA (2017)

Rare neurological channelopathies — networks to study patients, pathogenesis and treatment

ανά Jen, Joanna C., Ashizawa, Tetsuo, Griggs, Robert C., Waters, Michael F.
Τόπος έκδοσης Nat Rev Neurol (2016)

Phenotypic and Genetic Analysis of a Large Family With Migraine-Associated Vertigo

ανά Lee, Hane, Jen, Joanna C., Cha, Yoon-Hee, Nelson, Stanley F., Baloh, Robert W.
Έκδοση 2007

Impaired K(+) binding to glial glutamate transporter EAAT1 in migraine

ανά Kovermann, Peter, Hessel, Margarita, Kortzak, Daniel, Jen, Joanna C., Koch, Johannes, Fahlke, Christoph, Freilinger, Tobias
Τόπος έκδοσης Sci Rep (2017)

Neuropathology and Genetics of Cerebroretinal Vasculopathies

ανά Kolar, Grant R., Kothari, Parul H., Khanlou, Negar, Jen, Joanna C., Schmidt, Robert E., Vinters, Harry V.
Τόπος έκδοσης Brain Pathol (2014)

Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria

ανά Steffen, Janos, Vashisht, Ajay A., Wan, Jijun, Jen, Joanna C., Claypool, Steven M., Wohlschlegel, James A., Koehler, Carla M.
Τόπος έκδοσης Mol Biol Cell (2017)

TREX1 is expressed by microglia in normal human brain and increases in regions affected by ischemia

ανά Kothari, Parul H., Kolar, Grant R., Jen, Joanna C., Hajj‐Ali, Rula, Bertram, Paula, Schmidt, Robert E., Atkinson, John P.
Τόπος έκδοσης Brain Pathol (2018)

A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors

ανά Darvish, Hossein, Azcona, Luis J., Alehabib, Elham, Jamali, Faezeh, Tafakhori, Abbas, Ranji-Burachaloo, Sakineh, Jen, Joanna C., Paisán-Ruiz, Coro
Τόπος έκδοσης Neurol Genet (2019)

Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2

ανά Wan, Jijun, Mamsa, Hafsa, Johnston, Janine L., Spriggs, Elizabeth L., Singer, Harvey S., Zee, David S., Al-Bayati, Alhamza R., Baloh, Robert W., Jen, Joanna C.
Έκδοση 2011

Episodic ataxia type 1: clinical characterization, quality of life and genotype–phenotype correlation

ανά Graves, Tracey D., Cha, Yoon-Hee, Hahn, Angelika F., Barohn, Richard, Salajegheh, Mohammed K., Griggs, Robert C., Bundy, Brian N., Jen, Joanna C., Baloh, Robert W., Hanna, Michael G.
Έκδοση 2014

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

ανά Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B., McLean, Catriona A., Kornberg, Andrew J., Joseph, Jörg, Lockhart, Paul J., Zerres, Klaus, Ryan, Monique M., Nelson, Stanley F., Koehler, Carla M., Jen, Joanna C.
Τόπος έκδοσης Brain (2016)

Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy

ανά Ford, Andria L., Chin, Victoria W., Fellah, Slim, Binkley, Michael M., Bodin, Allie M., Balasetti, Vamshi, Taiwo, Yewande, Kang, Peter, Lin, Doris, Jen, Joanna C., Grand, M. Gilbert, Bogacki, Madonna, Liszewski, M. Kathryn, Hourcade, Dennis, Chen, Yasheng, Hassenstab, Jason, Lee, Jin-Moo, An, Hongyu, Miner, Jonathan J., Atkinson, John P.
Τόπος έκδοσης Neurology (2020)

Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations

ανά Rudnik-Schöneborn, Sabine, Senderek, Jan, Jen, Joanna C., Houge, Gunnar, Seeman, Pavel, Puchmajerová, Alena, Graul-Neumann, Luitgard, Seidel, Ulrich, Korinthenberg, Rudolf, Kirschner, Janbernd, Seeger, Jürgen, Ryan, Monique M., Muntoni, Francesco, Steinlin, Maja, Sztriha, Laszlo, Colomer, Jaume, Hübner, Christoph, Brockmann, Knut, Van Maldergem, Lionel, Schiff, Manuel, Holzinger, Andreas, Barth, Peter, Reardon, William, Yourshaw, Michael, Nelson, Stanley F., Eggermann, Thomas, Zerres, Klaus
Έκδοση 2013

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

ανά Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P., Hong, Ji Eun, Leong, Derek W., Senderek, Jan, Salman, Michael S., Chitayat, David, Seeman, Pavel, von Moers, Arpad, Graul-Neumann, Luitgard, Kornberg, Andrew J., Castro-Gago, Manuel, Sobrido, María-Jesús, Sanefuji, Masafumi, Shieh, Perry B., Salamon, Noriko, Kim, Ronald C., Vinters, Harry V., Chen, Zugen, Zerres, Klaus, Ryan, Monique M., Nelson, Stanley F., Jen, Joanna C.
Έκδοση 2012

Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

ανά Jen, Joanna C., Chan, Wai-Man, Bosley, Thomas M., Wan, Jijun, Carr, Janai R., Rüb, Udo, Shattuck, David, Salamon, Georges, Kudo, Lili C., Ou, Jing, Lin, Doris D. M., Salih, Mustafa A. M., Kansu, Tülay, Dhalaan, Hesham al, Zayed, Zayed al, MacDonald, David B., Stigsby, Bent, Plaitakis, Andreas, Dretakis, Emmanuel K., Gottlob, Irene, Pieh, Christina, Traboulsi, Elias I., Wang, Qing, Wang, Lejin, Andrews, Caroline, Yamada, Koki, Demer, Joseph L., Karim, Shaheen, Alger, Jeffry R., Geschwind, Daniel H., Deller, Thomas, Sicotte, Nancy L., Nelson, Stanley F., Baloh, Robert W., Engle, Elizabeth C.
Έκδοση 2004

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

ανά Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João, Sears, Renee L., Marisa Ramos, Eliana, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L., Goizet, Cyril, Jen, Joanna C., Kirdlarp, Suppachok, Lang, Anthony E., Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S., Simpson, Sheila A., Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K., Vanakker, Olivier, Wessels, Marja W., Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H., Battini, Jean-Luc, Coppola, Giovanni
Τόπος έκδοσης Nat Genet (2015)

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

ανά Stam, Anine H., Kothari, Parul H., Shaikh, Aisha, Gschwendter, Andreas, Jen, Joanna C., Hodgkinson, Suzanne, Hardy, Todd A., Hayes, Michael, Kempster, Peter A., Kotschet, Katya E., Bajema, Ingeborg M., van Duinen, Sjoerd G., Maat-Schieman, Marion L. C., de Jong, Paulus T. V. M., de Smet, Marc D., de Wolff-Rouendaal, Didi, Dijkman, Greet, Pelzer, Nadine, Kolar, Grant R., Schmidt, Robert E., Lacey, JoAnne, Joseph, Daniel, Fintak, David R., Grand, M. Gilbert, Brunt, Elizabeth M., Liapis, Helen, Hajj-Ali, Rula A., Kruit, Mark C., van Buchem, Mark A., Dichgans, Martin, Frants, Rune R., van den Maagdenberg, Arn M. J. M., Haan, Joost, Baloh, Robert W., Atkinson, John P., Terwindt, Gisela M., Ferrari, Michel D.
Τόπος έκδοσης Brain (2016)

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

ανά Hsu, Sandy Chan, Sears, Renee L., Lemos, Roberta R., Quintáns, Beatriz, Huang, Alden, Spiteri, Elizabeth, Nevarez, Lisette, Mamah, Catherine, Zatz, Mayana, Pierce, Kerrie D., Fullerton, Janice M., Adair, John C., Berner, Jon E., Bower, Matthew, Brodaty, Henry, Carmona, Olga, Dobricić, Valerija, Fogel, Brent L., García-Estevez, Daniel, Goldman, Jill, Goudreau, John L., Hopfer, Suellen, Janković, Milena, Jaumà, Serge, Jen, Joanna C., Kirdlarp, Suppachok, Klepper, Joerg, Kostić, Vladimir, Lang, Anthony E., Linglart, Agnès, Maisenbacher, Melissa K., Manyam, Bala V., Mazzoni, Pietro, Miedzybrodzka, Zofia, Mitarnun, Witoon, Mitchell, Philip B., Mueller, Jennifer, Novaković, Ivana, Paucar, Martin, Paulson, Henry, Simpson, Sheila A., Svenningsson, Per, Tuite, Paul, Vitek, Jerrold, Wetchaphanphesat, Suppachok, Williams, Charles, Yang, Michele, Schofield, Peter R., de Oliveira, João R. M., Sobrido, María-Jesús, Geschwind, Daniel H., Coppola, Giovanni
Έκδοση 2013