Articles

• Open Access

  Analysis of rare copy number variation in absence epilepsies

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

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  Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt

  Magy Abdelwahab, Derek Blankenship, Raphael Schiffmann

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  Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II

  Leila Motlagh, Ralph Golbik, Wolfgang Sippl, Stephan Zierz

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

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

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  Clinical course and prognosis in patients with Gaucher disease and parkinsonism

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

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

  Yi 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

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  Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood

  David 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

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  Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene

  Xiao-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

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  Familial aggregation of Parkinson disease in UtahA population-based analysis using death certificates

  Rodolfo Savica, Lisa A. Cannon-Albright, Stefan Pulst

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