Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

By Gerards Mike  

Brain, Vol. 136, Iss. 3, 2013-03 ,pp. : 882-890

Oxford University Press

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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

By Johnson Janel O.  

Brain, Vol. 135, Iss. 9, 2012-09 ,pp. : 2875-2882

Oxford University Press

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Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

By Zanni Ginevra   Scotton Chiara   Passarelli Chiara   Fang Mingyan   Barresi Sabina   Dallapiccola Bruno   Wu Bin   Gualandi Francesca   Ferlini Alessandra   Bertini E.   Wei Wang  

Neurogenetics, Vol. 14, Iss. 3-4, 2013-11 ,pp. : 247-250

Springer Publishing Company

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Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

By Ohba Chihiro   Osaka Hitoshi   Iai Mizue   Yamashita Sumimasa   Suzuki Yume   Aida Noriko   Shimozawa Nobuyuki   Takamura Ayumi   Doi Hiroshi   Tomita-Katsumoto Atsuko   Nishiyama Kiyomi   Tsurusaki Yoshinori   Nakashima Mitsuko   Miyake Noriko   Eto Yoshikatsu   Tanaka Fumiaki   Matsumoto Naomichi   Saitsu Hirotomo  

Neurogenetics, Vol. 14, Iss. 3-4, 2013-11 ,pp. : 225-232

Springer Publishing Company

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Differential Screening of Mutated SOD1 Transgenic Mice Reveals Early Up-Regulation of a Fast Axonal Transport Component in Spinal Cord Motor Neurons

By Dupuis L.   de Tapia M.   René F.   Lutz-Bucher B.   Gordon J.W.   Mercken L.   Pradier L.   Loeffler J-P.  

Neurobiology of Disease, Vol. 7, Iss. 4, 2000-08 ,pp. : 274-285

Academic Press

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