Editorial
- Open AccessCopy number variants in absence epilepsyFurther complications of the pictureChantal Depondt
Articles
- Open AccessAnalysis of rare copy number variation in absence epilepsiesLaura Addis, Richard E. Rosch, Antonio Valentin, Andrew Makoff, Robert Robinson, Kate V. Everett, Lina Nashef, Deb K. Pal
- Open AccessLong-term follow-up and sudden unexpected death in Gaucher disease type 3 in EgyptMagy Abdelwahab, Derek Blankenship, Raphael Schiffmann
- Open AccessStabilization of the thermolabile variant S113L of carnitine palmitoyltransferase IILeila Motlagh, Ralph Golbik, Wolfgang Sippl, Stephan Zierz
- Open AccessNew susceptible variant of COQ2 gene in Japanese patients with sporadic multiple system atrophyZhuoran Sun, Yasuyuki Ohta, Toru Yamashita, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Koji Abe
- Open AccessClinical course and prognosis in patients with Gaucher disease and parkinsonismGrisel Lopez, Jenny Kim, Edythe Wiggs, Dahima Cintron, Catherine Groden, Nahid Tayebi, Pramod K. Mistry, Gregory M. Pastores, Ari Zimran, Ozlem Goker-Alpan, Ellen Sidransky
- Open AccessCompound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosisYi Yang, Lei Zhang, David R. Lynch, Thomas Lukas, Kreshnik Ahmeti, Patrick M.A. Sleiman, Eanna Ryan, Kimberly A. Schadt, Jordan H. Newman, Han-Xiang Deng, Nailah Siddique, Teepu Siddique
- Open AccessHomozygous deletion in MICU1 presenting with fatigue and lethargy in childhoodDavid Lewis-Smith, Kimberli J. Kamer, Helen Griffin, Anne-Marie Childs, Karen Pysden, Denis Titov, Jennifer Duff, Angela Pyle, Robert W. Taylor, Patrick Yu-Wai-Man, Venkateswaran Ramesh, Rita Horvath, Vamsi K. Mootha, Patrick F. Chinnery
- Open AccessParoxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 geneXiao-Rong Liu, Dan Huang, Jie Wang, Yi-Fan Wang, Hui Sun, Bin Tang, Wen Li, Jin-Xing Lai, Na He, Mei Wu, Tao Su, Heng Meng, Yi-Wu Shi, Bing-Mei Li, Bei-Sha Tang, Wei-Ping Liao
- Open AccessFamilial aggregation of Parkinson disease in UtahA population-based analysis using death certificatesRodolfo Savica, Lisa A. Cannon-Albright, Stefan Pulst
Clinical/Scientific Notes
- Open Access“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathiesMarta Romani, Cybel Mehawej, Tommaso Mazza, Andre Mégarbané, Enza Maria Valente
- Open AccessExonic deletion of SLC9A9 in autism with epilepsyMeeta Cardon, Karen D. Evankovich, J. Lloyd Holder
- Open AccessReversible white matter lesions associated with mutant EHMT1 and Kleefstra syndromeXu He, Oana Caluseriu, Ratika Srivastava, Anne Marie Denny, Francois V. Bolduc
- Open AccessDe novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopiaClaire S. Leblond, Alina Webber, Ziv Gan-Or, Fraser Moore, Alain Dagher, Patrick A. Dion, Guy A. Rouleau
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