Publications by authors named "Daniel Ezzo"

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Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.
Ying Hu, Payam Mohassel, Sandra Donkervoort, Pomi Yun, Véronique Bolduc, Daniel Ezzo

J Neuromuscul Dis· April 2020

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Dominant collagen XII mutations cause a distal myopathy.
Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata

Ann Clin Transl Neurol· October 2019

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Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
David T Burns, Sandra Donkervoort, Juliane S Müller, Ellen Knierim, Diana Bharucha-Goebel, Daniel Ezzo

Am J Hum Genet· May 2018

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Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature.
David C Schorling, Tobias Dietel, Christina Evers, Katrin Hinderhofer, Rudolf Korinthenberg, Daniel Ezzo

Neuropediatrics· October 2017

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HSP and deafness: Neurocristopathy caused by a novel mosaic mutation.
Sandra Donkervoort, Diana Bharucha-Goebel, Pomi Yun, Ying Hu, Payam Mohassel, Daniel Ezzo

Neurol Genet· June 2017

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