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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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April 2016; 2 (2)

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Editorial

  • Open Access
    Copy number variants in absence epilepsyFurther complications of the picture
    Chantal Depondt
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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
    • Abstract
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  • Open Access
    Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt
    Magy Abdelwahab, Derek Blankenship, Raphael Schiffmann
    • Abstract
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  • Open Access
    Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II
    Leila Motlagh, Ralph Golbik, Wolfgang Sippl, Stephan Zierz
    • Abstract
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  • Open Access
    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
    • Abstract
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  • Open Access
    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
    • Abstract
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  • Open Access
    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
    • Abstract
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  • Open Access
    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
    • Abstract
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  • Open Access
    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
    • Abstract
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  • Open Access
    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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Clinical/Scientific Notes

  • Open Access
    “Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies
    Marta Romani, Cybel Mehawej, Tommaso Mazza, Andre Mégarbané, Enza Maria Valente
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  • Open Access
    Exonic deletion of SLC9A9 in autism with epilepsy
    Meeta Cardon, Karen D. Evankovich, J. Lloyd Holder
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  • Open Access
    Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome
    Xu He, Oana Caluseriu, Ratika Srivastava, Anne Marie Denny, Francois V. Bolduc
    • Full Text
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  • Open Access
    De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia
    Claire S. Leblond, Alina Webber, Ziv Gan-Or, Fraser Moore, Alain Dagher, Patrick A. Dion, Guy A. Rouleau
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