Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy

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Springer Publishing Company

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A novel deletion in the GJA12 gene causes Pelizaeus–Merzbacher-like disease

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A novel missense mutation in the L1CAM gene in a boy with L1 disease

By Simonati A.   Boaretto F.   Vettori A.   Dabrilli P.   Criscuolo L.   Rizzuto N.   Mostacciuolo M.  

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A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus‐dystonia syndrome

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Neurological Research, Vol. 35, Iss. 6, 2013-07 ,pp. : 659-662

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A truncating mutation in B3GNT1 causes severe Walker–Warburg syndrome

By Shaheen Ranad   Faqeih Eissa   Ansari Shinu   Alkuraya Fowzan  

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