Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR1‐ and SOD1‐linked ALS
Watanabe, Seiji, Ilieva, Hristelina, Tamada, Hiromi, Nomura, Hanae, Komine, Okiru, Endo, Fumito, Jin, Shijie, Mancias, Pedro, Kiyama, Hiroshi, Yamanaka, Koji
Published in EMBO molecular medicine (01.12.2016)
Published in EMBO molecular medicine (01.12.2016)
Get full text
Journal Article
Transverse Myelitis and Guillain-Barré Syndrome Associated with Cat-Scratch Disease, Texas, USA, 2011
Zakhour, Ramia, Mancias, Pedro, Heresi, Gloria, Pérez, Norma
Published in Emerging infectious diseases (01.09.2018)
Published in Emerging infectious diseases (01.09.2018)
Get full text
Journal Article
Sural sparing pattern discriminates Guillain-Barré syndrome from its mimics
Derksen, Angelika, Ritter, Christian, Athar, Parveen, Kieseier, Bernd C., Mancias, Pedro, Hartung, Hans-Peter, Sheikh, Kazim A., Lehmann, Helmar C.
Published in Muscle & nerve (01.11.2014)
Published in Muscle & nerve (01.11.2014)
Get full text
Journal Article
Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency
Preisler, Nicolai, Cohen, Jonathan, Vissing, Christoffer Rasmus, Madsen, Karen Lindhardt, Heinicke, Katja, Sharp, Lydia Jane, Phillips, Lauren, Romain, Nadine, Park, Sun Young, Newby, Marta, Wyrick, Phil, Mancias, Pedro, Galbo, Henrik, Vissing, John, Haller, Ronald Gerald
Published in Molecular genetics and metabolism (01.11.2017)
Published in Molecular genetics and metabolism (01.11.2017)
Get full text
Journal Article
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
Lupski, James R, Inoue, Ken, Khajavi, Mehrdad, Ohyama, Tomoko, Hirabayashi, Shin-ichi, Wilson, John, Reggin, James D, Mancias, Pedro, Butler, Ian J, Wilkinson, Miles F, Wegner, Michael
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
Get full text
Journal Article
Identification of a novel microdeletion causative of Nance‐Horan syndrome
Lopez Martinolich, Mariana, Northrup, Hope, Mancias, Pedro, Hillman, Paul, Rao, Kavya, Mowrey, Kate
Published in Molecular genetics & genomic medicine (01.03.2022)
Published in Molecular genetics & genomic medicine (01.03.2022)
Get full text
Journal Article
Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
Boerkoel, Cornelius F., Takashima, Hiroshi, Garcia, Carlos A., Olney, Richard K., Johnson, John, Berry, Katherine, Russo, Paul, Kennedy, Shelley, Teebi, Ahmad S., Scavina, Mena, Williams, Lowell L., Mancias, Pedro, Butler, Ian J., Krajewski, Karen, Shy, Michael, Lupski, James R.
Published in Annals of neurology (01.02.2002)
Published in Annals of neurology (01.02.2002)
Get full text
Journal Article
CMT4A: Identification of a Hispanic GDAP1 founder mutation
Boerkoel, Cornelius F., Takashima, Hiroshi, Nakagawa, Masanori, Izumo, Shuji, Armstrong, Dawna, Butler, Ian, Mancias, Pedro, Papasozomenos, Sozos C. H., Stern, Lawrence Z., Lupski, James R.
Published in Annals of neurology (01.03.2003)
Published in Annals of neurology (01.03.2003)
Get full text
Journal Article
Does Short‐Term Antiepileptic Drug Treatment in Children Result in Cognitive or Behavioral Changes?
Williams, Jane, Bates, Stephen, Griebel, May L., Lange, Bernadette, Mancias, Pedro, Pihoker, Catherine M., Dykman, Roscoe
Published in Epilepsia (Copenhagen) (01.10.1998)
Published in Epilepsia (Copenhagen) (01.10.1998)
Get full text
Journal Article
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models
Morelli, Kathryn H, Griffin, Laurie B, Pyne, Nettie K, Wallace, Lindsay M, Fowler, Allison M, Oprescu, Stephanie N, Takase, Ryuichi, Wei, Na, Meyer-Schuman, Rebecca, Mellacheruvu, Dattatreya, Kitzman, Jacob O, Kocen, Samuel G, Hines, Timothy J, Spaulding, Emily L, Lupski, James R, Nesvizhskii, Alexey, Mancias, Pedro, Butler, Ian J, Yang, Xiang-Lei, Hou, Ya-Ming, Antonellis, Anthony, Harper, Scott Q, Burgess, Robert W
Published in The Journal of clinical investigation (01.12.2019)
Published in The Journal of clinical investigation (01.12.2019)
Get full text
Journal Article
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Gonzaga-Jauregui, Claudia, Harel, Tamar, Gambin, Tomasz, Kousi, Maria, Griffin, Laurie B., Francescatto, Ludmila, Ozes, Burcak, Karaca, Ender, Jhangiani, Shalini N., Bainbridge, Matthew N., Lawson, Kim S., Pehlivan, Davut, Okamoto, Yuji, Withers, Marjorie, Mancias, Pedro, Slavotinek, Anne, Reitnauer, Pamela J., Goksungur, Meryem T., Shy, Michael, Crawford, Thomas O., Koenig, Michel, Willer, Jason, Flores, Brittany N., Pediaditrakis, Igor, Us, Onder, Wiszniewski, Wojciech, Parman, Yesim, Antonellis, Anthony, Muzny, Donna M., Katsanis, Nicholas, Battaloglu, Esra, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.
Published in Cell reports (Cambridge) (18.08.2015)
Published in Cell reports (Cambridge) (18.08.2015)
Get full text
Journal Article
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.
Published in Genetics in medicine (01.01.2017)
Published in Genetics in medicine (01.01.2017)
Get full text
Journal Article