Acute abducens nerve palsy in a patient with the novel coronavirus disease (COVID-19)

por Gonçalves dos Santos Martins, Thiago
Publicado en J AAPOS (2021)

SkpA Restrains Synaptic Terminal Growth during Development and Promotes Axonal Degeneration following Injury

por Brace, E. J., Wu, Chunlai, Valakh, Vera, DiAntonio, Aaron
Publicado 2014

ProNGF induces TNFα-dependent death of retinal ganglion cells through a p75(NTR) non-cell-autonomous signaling pathway

por Lebrun-Julien, Frédéric, Bertrand, Mathieu J., De Backer, Olivier, Stellwagen, David, Morales, Carlos R., Di Polo, Adriana, Barker, Philip A.
Publicado 2010

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans

por Whitman, Mary C, Miyake, Noriko, Nguyen, Elaine H, Bell, Jessica L, Matos Ruiz, Paola M, Chan, Wai-Man, Di Gioia, Silvio Alessandro, Mukherjee, Nisha, Barry, Brenda J, Bosley, T M, Khan, Arif O, Engle, Elizabeth C
Publicado en Hum Mol Genet (2019)

Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype

por Adebola, Adijat A., Di Castri, Theo, He, Chui-Zhen, Salvatierra, Laura A., Zhao, Jian, Brown, Kristy, Lin, Chyuan-Sheng, Worman, Howard J., Liem, Ronald K.H.
Publicado en Hum Mol Genet (2015)

Spinal microgliosis due to resident microglial proliferation is required for pain hypersensitivity after peripheral nerve injury

por Gu, Nan, Peng, Jiyun, Murugan, Madhuvika, Wang, Xi, Eyo, Ukpong B., Sun, Dongming, Ren, Yi, DiCicco-Bloom, Emanuel, Young, Wise, Dong, Hailong, Wu, Long-Jun
Publicado en Cell Rep (2016)

Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families...

por Azzedine, H., Bolino, A., Taïeb, T., Birouk, N., Di Duca, M., Bouhouche, A., Benamou, S., Mrabet, A., Hammadouche, T., Chkili, T., Gouider, R., Ravazzolo, R., Brice, A., Laporte, J., LeGuern, E.
Publicado 2003

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

por Gavrilina, Tatiana O., McGovern, Vicki L., Workman, Eileen, Crawford, Thomas O., Gogliotti, Rocky G., DiDonato, Christine J., Monani, Umrao R., Morris, Glenn E., Burghes, Arthur H.M.
Publicado 2008

Clinical features of spinal and bulbar muscular atrophy

por Rhodes, Lindsay E., Freeman, Brandi K., Auh, Sungyoung, Kokkinis, Angela D., La Pean, Alison, Chen, Cheunju, Lehky, Tanya J., Shrader, Joseph A., Levy, Ellen W., Harris-Love, Michael, Di Prospero, Nicholas A., Fischbeck, Kenneth H.
Publicado 2009

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

por Park, Jong G., Tischfield, Max A., Nugent, Alicia A., Cheng, Long, Di Gioia, Silvio Alessandro, Chan, Wai-Man, Maconachie, Gail, Bosley, Thomas M., Summers, C. Gail, Hunter, David G., Robson, Caroline D., Gottlob, Irene, Engle, Elizabeth C.
Publicado en Am J Hum Genet (2016)

A randomised, placebo-controlled trial of dutasteride in spinal and bulbar muscular atrophy

por Fernández-Rhodes, Lindsay E, Kokkinis, Angela D, White, Michelle J, Watts, Charlotte A, Auh, Sungyoung, Jeffries, Neal O, Shrader, Joseph A, Lehky, Tanya J, Li, Li, Ryder, Jennifer E, Levy, Ellen W, Solomon, Beth I, Harris-Love, Michael O, La Pean, Alison, Schindler, Alice B, Chen, CheunJu, Di Prospero, Nicholas A, Fischbeck, Kenneth H
Publicado 2011

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

por Dulovic-Mahlow, Marija, Trinh, Joanne, Kandaswamy, Krishna Kumar, Braathen, Geir Julius, Di Donato, Nataliya, Rahikkala, Elisa, Beblo, Skadi, Werber, Martin, Krajka, Victor, Busk, Øyvind L., Baumann, Hauke, Al-Sannaa, Nouriya Abbas, Hinrichs, Frauke, Affan, Rabea, Navot, Nir, Al Balwi, Mohammed A., Oprea, Gabriela, Holla, Øystein L., Weiss, Maximilian E.R., Jamra, Rami A., Kahlert, Anne-Karin, Kishore, Shivendra, Tveten, Kristian, Vos, Melissa, Rolfs, Arndt, Lohmann, Katja
Publicado en Am J Hum Genet (2019)

MON-472 Potentially Pathogenic Variants Identified in Patients with Hypopituitarism by Molecular Inversion Probe Sequencing (MIPS), a New Molecular Approach for Low Cost Gene Panel Sequencing

por Vishnopolska, Sebastian, Mortensen, Amanda, Braslavsky, Debora, Keselman, Ana, Bergada, Ignacio, Marino, Roxana, Ramirez, Pablo, Perez Garrido, Natalia, Ciaccio, Marta, Di Palma, María, Belgorosky, Alicia, Marti, Marcelo, Kitzman, Jacob, Camper, Sally, Perez Millan, Maria
Publicado en J Endocr Soc (2019)

Hard to Swallow: Developmental Biological Insights into Pediatric Dysphagia

por LaMantia, Anthony-Samuel, Moody, Sally A., Maynard, Thomas M., Karpinski, Beverly A., Zohn, Irene E., Mendelowitz, David, Lee, Norman H., Popratiloff, Anastas
Publicado en Dev Biol (2015)