Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

By Kevelam Sietske H.  

Brain, Vol. 136, Iss. 5, 2013-05 ,pp. : 1534-1543

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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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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Novel NTRK1 mutations cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population

By Tüysüz Beyhan  

Neurogenetics, Vol. 9, Iss. 2, 2008-05 ,pp. : 119-125

Springer Publishing Company

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A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy

By Hicks Debbie  

Brain, Vol. 134, Iss. 1, 2011-01 ,pp. : 171-182

Oxford University Press

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