Spotlight on the June 2015 issue

被引：1

作者：

Pulst, Stefan M. ^{[1
]}

机构：

[1] Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA

来源：

NEUROLOGY-GENETICS | 2015年 / 1卷 / 01期

关键词：

D O I：

10.1212/NXG.0000000000000011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：2

共 9 条

[1] CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease [J].

Auranen, Mari ;

Ylikallio, Emil ;

Shcherbii, Maria ;

Paetau, Anders ;

Kiuru-Enari, Sari ;

Toppila, Jussi P. ;

Tyynismaa, Henna .

NEUROLOGY-GENETICS, 2015, 1 (01) :e1

[2] PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry [J].

Auranen, Mari ;

Palmio, Johanna ;

Ylikallio, Emil ;

Huovinen, Sanna ;

Paetau, Anders ;

Sandell, Satu ;

Haapasalo, Hannu ;

Viitaniemi, Kati ;

Purila, Paivi ;

Tyynismaa, Henna ;

Udd, Bjarne .

NEUROLOGY-GENETICS, 2015, 1 (01)

[3] Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis [J].

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. .

NEUROLOGY-GENETICS, 2015, 1 (01)

[4] Are migraineurs naturally born "well-hearted"? [J].

Ducros, Anne .

NEUROLOGY-GENETICS, 2015, 1 (01)

[5] LOSS-OF-FUNCTION MUTATIONS IN RAB39B ARE ASSOCIATED WITH TYPICAL EARLY-ONSET PARKINSON DISEASE [J].

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, Francois ;

Singleton, Andrew ;

Brice, Alexis .

NEUROLOGY-GENETICS, 2015, 1 (01)

[6] Phenotypic and molecular analyses of primary lateral sclerosis [J].

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 .

NEUROLOGY-GENETICS, 2015, 1 (01)

[7] Epilepsy with auditory features A heterogeneous clinico-molecular disease [J].

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 .

NEUROLOGY-GENETICS, 2015, 1 (01)

[8] Respiratory chain deficiency in nonmitochondrial disease [J].

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 .

NEUROLOGY-GENETICS, 2015, 1 (01)

[9] Genetic analysis for a shared biological basis between migraine and coronary artery disease [J].

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 ;

Hamalainen, 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 ;

Smith, George Davey ;

Epstein, Stephen E. ;

Erdmann, Jeanette ;

Ferrari, Michel D. ;

Gobel, Hartmut ;

Hall, Alistair S. ;

Jarvelin, Marjo-Riitta ;

Kallela, Mikko ;

Kaprio, Jaakko ;

Kathiresan, Sekar ;

Lehtimaki, Terho ;

McPherson, Ruth ;

Marz, Winfried ;

Nyholt, Dale R. ;

O'Donnell, Christopher J. ;

Quaye, Lydia ;

Rader, Daniel J. ;

Raitakari, Olli ;

Roberts, Robert ;

Schunkert, Heribert ;

Schurks, Markus ;

Stewart, Alexandre F. R. ;

Terwindt, Gisela M. .

NEUROLOGY-GENETICS, 2015, 1 (01) :e10

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