Welcome to Neurology: Genetics

por Pulst, Stefan M.
Publicado 2015

Epilepsy with auditory features: A heterogeneous clinico-molecular disease

por Pippucci, Tommaso, Licchetta, Laura, Baldassari, Sara, Palombo, Flavia, Menghi, Veronica, D'Aurizio, Romina, Leta, Chiara, Stipa, Carlotta, Boero, Giovanni, d'Orsi, Giuseppe, Magi, Alberto, Scheffer, Ingrid, Seri, Marco, Tinuper, Paolo, Bisulli, Francesca
Publicado 2015

Genetic analysis for a shared biological basis between migraine and coronary artery disease

por Winsvold, Bendik S., Nelson, Christopher P., Malik, Rainer, Gormley, Padhraig, Anttila, Verneri, Vander Heiden, Jason, Elliott, Katherine S., Jacobsen, Line M., Palta, Priit, Amin, Najaf, de Vries, Boukje, Hämäläinen, Eija, Freilinger, Tobias, Ikram, M. Arfan, Kessler, Thorsten, Koiranen, Markku, Ligthart, Lannie, McMahon, George, Pedersen, Linda M., Willenborg, Christina, Won, Hong-Hee, Olesen, Jes, Artto, Ville, Assimes, Themistocles L., Blankenberg, Stefan, Boomsma, Dorret I., Cherkas, Lynn, Davey Smith, George, Epstein, Stephen E., Erdmann, Jeanette, Ferrari, Michel D., Göbel, Hartmut, Hall, Alistair S., Jarvelin, Marjo-Riitta, Kallela, Mikko, Kaprio, Jaakko, Kathiresan, Sekar, Lehtimäki, Terho, McPherson, Ruth, März, Winfried, Nyholt, Dale R., O'Donnell, Christopher J., Quaye, Lydia, Rader, Daniel J., Raitakari, Olli, Roberts, Robert, Schunkert, Heribert, Schürks, Markus, Stewart, Alexandre F.R., Terwindt, Gisela M., Thorsteinsdottir, Unnur, van den Maagdenberg, Arn M.J.M., van Duijn, Cornelia, Wessman, Maija, Kurth, Tobias, Kubisch, Christian, Dichgans, Martin, Chasman, Daniel I., Cotsapas, Chris, Zwart, John-Anker, Samani, Nilesh J., Palotie, Aarno
Publicado 2015

Are migraineurs naturally born “well-hearted”?

por Ducros, Anne
Publicado 2015

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease

por Lesage, Suzanne, Bras, Jose, Cormier-Dequaire, Florence, Condroyer, Christel, Nicolas, Aude, Darwent, Lee, Guerreiro, Rita, Majounie, Elisa, Federoff, Monica, Heutink, Peter, Wood, Nicholas W., Gasser, Thomas, Hardy, John, Tison, François, Singleton, Andrew, Brice, Alexis
Publicado 2015

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

por Auranen, Mari, Ylikallio, Emil, Shcherbii, Maria, Paetau, Anders, Kiuru-Enari, Sari, Toppila, Jussi P., Tyynismaa, Henna
Publicado 2015

Respiratory chain deficiency in nonmitochondrial disease

por Pyle, Angela, Nightingale, Helen J., Griffin, Helen, Abicht, Angela, Kirschner, Janbernd, Baric, Ivo, Cuk, Mario, Douroudis, Konstantinos, Feder, Lea, Kratz, Markus, Czermin, Birgit, Kleinle, Stephanie, Santibanez-Koref, Mauro, Karcagi, Veronika, Holinski-Feder, Elke, Chinnery, Patrick F., Horvath, Rita
Publicado 2015

Phenotypic and molecular analyses of primary lateral sclerosis

por Mitsumoto, Hiroshi, Nagy, Peter L., Gennings, Chris, Murphy, Jennifer, Andrews, Howard, Goetz, Raymond, Floeter, Mary Kay, Hupf, Jonathan, Singleton, Jessica, Barohn, Richard J., Nations, Sharon, Shoesmith, Christen, Kasarskis, Edward, Factor-Litvak, Pam
Publicado 2015

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis

por Dhindsa, Ryan S., Bradrick, Shelton S., Yao, Xiaodi, Heinzen, Erin L., Petrovski, Slave, Krueger, Brian J., Johnson, Michael R., Frankel, Wayne N., Petrou, Steven, Boumil, Rebecca M., Goldstein, David B.
Publicado 2015

PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry

por Auranen, Mari, Palmio, Johanna, Ylikallio, Emil, Huovinen, Sanna, Paetau, Anders, Sandell, Satu, Haapasalo, Hannu, Viitaniemi, Kati, Piirilä, Päivi, Tyynismaa, Henna, Udd, Bjarne
Publicado 2015

Spotlight on the June 2015 issue

por Pulst, Stefan M.
Publicado 2015

Analysis of rare copy number variation in absence epilepsies

por Addis, Laura, Rosch, Richard E., Valentin, Antonio, Makoff, Andrew, Robinson, Robert, Everett, Kate V., Nashef, Lina, Pal, Deb K.
Publicado 2016

Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II

por Motlagh, Leila, Golbik, Ralph, Sippl, Wolfgang, Zierz, Stephan
Publicado 2016

Spinocerebellar ataxia type 36 in the Han Chinese

por Lee, Yi-Chung, Tsai, Pei-Chien, Guo, Yuh-Cherng, Hsiao, Cheng-Tsung, Liu, Guan-Ting, Liao, Yi-Chu, Soong, Bing-Wen
Publicado 2016

Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis

por Yang, Yi, Zhang, Lei, Lynch, David R., Lukas, Thomas, Ahmeti, Kreshnik, Sleiman, Patrick M.A., Ryan, Eanna, Schadt, Kimberly A., Newman, Jordan H., Deng, Han-Xiang, Siddique, Nailah, Siddique, Teepu
Publicado 2016

Clinical course and prognosis in patients with Gaucher disease and parkinsonism

por Lopez, Grisel, Kim, Jenny, Wiggs, Edythe, Cintron, Dahima, Groden, Catherine, Tayebi, Nahid, Mistry, Pramod K., Pastores, Gregory M., Zimran, Ari, Goker-Alpan, Ozlem, Sidransky, Ellen
Publicado 2016

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia

por Leblond, Claire S., Webber, Alina, Gan-Or, Ziv, Moore, Fraser, Dagher, Alain, Dion, Patrick A., Rouleau, Guy A.
Publicado 2016

New susceptible variant of COQ2 gene in Japanese patients with sporadic multiple system atrophy

por Sun, Zhuoran, Ohta, Yasuyuki, Yamashita, Toru, Sato, Kota, Takemoto, Mami, Hishikawa, Nozomi, Abe, Koji
Publicado 2016

Exonic deletion of SLC9A9 in autism with epilepsy

por Cardon, Meeta, Evankovich, Karen D., Holder, J. Lloyd
Publicado 2016

“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies

por Romani, Marta, Mehawej, Cybel, Mazza, Tommaso, Mégarbané, Andre, Valente, Enza Maria
Publicado 2016