Clinical/Scientific Notes

• Open Access

  First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness

  Chiara La Morgia, Leonardo Caporali, Francesca Tagliavini, Flavia Palombo, Michele Carbonelli, Rocco Liguori, Piero Barboni, Valerio Carelli

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• Open Access

  A novel cathepsin D mutation in 2 siblings with late infantile neuronal ceroid lipofuscinosis

  Jineesh Thottath, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Ankit Verma, Manu Manamel, Archana Singh, V. Raman Rajendran, Sridhar Sivasubbu, Vinod Scaria

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• Open Access

  Double somatic mosaicism in a child with Dravet syndrome

  Alison M. Muir, Chontelle King, Amy L. Schneider, Aman S. Buttar, Ingrid E. Scheffer, Lynette G. Sadleir, Heather C. Mefford

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