Post-Treatment Ulceration and Bleeding After Cyanoacrylate Injection of Duodenal Varices

por Radlinski, Mark, Fie, Taylor, Richhart, Raymond, Wentworth, Brian, Caldwell, Stephen, Henry, Zachary
Publicado 2020

Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA(Gly) (MT-TG) variant

por Poole, Olivia V., Horga, Alejandro, Hardy, Steven A., Bugiardini, Enrico, Woodward, Cathy E., Hargreaves, Iain P., Merve, Ashirwad, Quinlivan, Rosaline, Taylor, Robert W., Hanna, Michael G., Pitceathly, Robert D.S.
Publicado 2020

Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation

por Knijnenburg, Annemarie C.S., Nicolai, Joost, Bok, Levinus A., Bay, Akin, Stegmann, Alexander P.A., Sinnema, Margje, Vreeburg, Maaike
Publicado 2020

Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition

por Rosenblum, Jared S., Cappadona, Anthony J., Argersinger, Davis P., Pang, Ying, Wang, Herui, Nazari, Matthew A., Munasinghe, Jeeva P., Donahue, Danielle R., Jha, Abhishek, Smirniotopoulos, James G., Miettinen, Markku M., Knutsen, Russell H., Kozel, Beth A., Zhuang, Zhengping, Pacak, Karel, Heiss, John D.
Publicado 2020

Neurologic outcomes in Friedreich ataxia: Study of a single-site cohort

por Pandolfo, Massimo
Publicado 2020

Use of local genetic ancestry to assess TOMM40-523′ and risk for Alzheimer disease

por Bussies, Parker L., Rajabli, Farid, Griswold, Anthony, Dorfsman, Daniel A., Whitehead, Patrice, Adams, Larry D., Mena, Pedro R., Cuccaro, Michael, Haines, Jonathan L., Byrd, Goldie S., Beecham, Gary W., Pericak-Vance, Margaret A., Young, Juan I., Vance, Jeffery M.
Publicado 2020

Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation

por Pandolfo, Massimo, Rai, Myriam, Remiche, Gauthier, Desmyter, Laurence, Vandernoot, Isabelle
Publicado 2020

Polygenic risk scores of several subtypes of epilepsies in a founder population

por Moreau, Claudia, Rébillard, Rose-Marie, Wolking, Stefan, Michaud, Jacques, Tremblay, Frédérique, Girard, Alexandre, Bouchard, Joanie, Minassian, Berge, Laprise, Catherine, Cossette, Patrick, Girard, Simon L.
Publicado 2020

Clinical and pathologic phenotype of a large family with heterozygous STUB1 mutation

por Mol, Merel O., van Rooij, Jeroen G.J., Brusse, Esther, Verkerk, Annemieke J.M.H., Melhem, Shamiram, den Dunnen, Wilfred F.A., Rizzu, Patrizia, Cupidi, Chiara, van Swieten, John C., Donker Kaat, Laura
Publicado 2020

4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis

por DeGasperis, Stephanie M., Bernard, Geneviève, Wolf, Nicole I., Miller, Elka, Pohl, Daniela
Publicado 2020

Novel EGR2 variant that associates with Charcot-Marie-Tooth disease when combined with lipopolysaccharide-induced TNF-α factor T49M polymorphism

por Blanco-Cantó, Maria Empar, Patel, Nikiben, Velasco-Aviles, Sergio, Casillas-Bajo, Angeles, Salas-Felipe, Juan, García-Escrivá, Alexandre, Díaz-Marín, Carmen, Cabedo, Hugo
Publicado 2020

Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective

por Thuriot, Fanny, Gravel, Elaine, Buote, Caroline, Doyon, Marianne, Lapointe, Elvy, Marcoux, Lydia, Larue, Sandrine, Nadeau, Amélie, Chénier, Sébastien, Waters, Paula J., Jacques, Pierre-Étienne, Gravel, Serge, Lévesque, Sébastien
Publicado 2020

Hereditary cerebral amyloid angiopathy, Piedmont-type mutation

por Kozberg, Mariel G., van Veluw, Susanne J., Frosch, Matthew P., Greenberg, Steven M.
Publicado 2020

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

por Winder, Thomas L., Tan, Christopher A., Klemm, Sarah, White, Hannah, Westbrook, Jody M., Wang, James Z., Entezam, Ali, Truty, Rebecca, Nussbaum, Robert L., McNally, Elizabeth M., Aradhya, Swaroop
Publicado 2020

Mitochondrial diseases in North America: An analysis of the NAMDC Registry

por Barca, Emanuele, Long, Yuelin, Cooley, Victoria, Schoenaker, Robert, Emmanuele, Valentina, DiMauro, Salvatore, Cohen, Bruce H., Karaa, Amel, Vladutiu, Georgirene D., Haas, Richard, Van Hove, Johan L.K., Scaglia, Fernando, Parikh, Sumit, Bedoyan, Jirair K., DeBrosse, Susanne D., Gavrilova, Ralitza H., Saneto, Russell P., Enns, Gregory M., Stacpoole, Peter W., Ganesh, Jaya, Larson, Austin, Zolkipli-Cunningham, Zarazuela, Falk, Marni J., Goldstein, Amy C., Tarnopolsky, Mark, Gropman, Andrea, Camp, Kathryn, Krotoski, Danuta, Engelstad, Kristin, Rosales, Xiomara Q., Kriger, Joshua, Grier, Johnston, Buchsbaum, Richard, Thompson, John L.P., Hirano, Michio
Publicado 2020

Trigeminal neuralgia associated with a solitary pontine lesion: clinical and neuroimaging definition of a new syndrome

por Tohyama, Sarasa, Hung, Peter Shih-Ping, Cheng, Joshua C., Zhang, Jia Y., Halawani, Aisha, Mikulis, David J., Oh, Jiwon, Hodaie, Mojgan
Publicado 2020

A qualitative study of the experience and impact of neuropathic pain in people living with HIV

por Scott, Whitney, Garcia Calderon Mendoza del Solar, Maite, Kemp, Harriet, McCracken, Lance M., C de C Williams, Amanda, Rice, Andrew S.C.
Publicado 2020

Lasmiditan inhibits calcitonin gene-related peptide release in the rodent trigeminovascular system

por Labastida-Ramírez, Alejandro, Rubio-Beltrán, Eloísa, Haanes, Kristian A., Chan, Kayi Y., Garrelds, Ingrid M., Johnson, Kirk W., Danser, Alexander H.J., Villalón, Carlos M., MaassenVanDenBrink, Antoinette
Publicado 2020

Shared liability to pain, common mental disorders, and long-term work disability differs among women and men

por Narusyte, Jurgita, Ropponen, Annina, Mittendorfer-Rutz, Ellenor, Svedberg, Pia
Publicado 2020

An unbiased and efficient assessment of excitability of sensory neurons for analgesic drug discovery

por Mohammed, Zainab A., Kaloyanova, Katerina, Nassar, Mohammed A.
Publicado 2020