Mike Shy

Publications (3)

A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.

Human molecular genetics

Avec: Pietro Fratta , Francesca Ornaghi , Gabriele Dati , Desirée Zambroni , Paola Saveri , Sophie Belin , Patrizia D'Adamo , Michael Shy , Angelo Quattrini , M Laura Feltri , Lawrence Wrabetz

Validation of the Italian version of the Charcot-Marie-Tooth disease Pediatric Scale.

Journal of the peripheral nervous system : JPNS

Avec: Riccardo Zuccarino , Valeria Prada , Isabella Moroni , Emanuela Pagliano , Maria Foscan , Giulia Robbiano , Chiara Pisciotta , Kayla Cornett , Rosemary Shy , Angelo Schenone , Davide Pareyson , Michael Shy , Joshua Burns

Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy.

HGG advances

Avec: Neal Sondheimer , Alberto Aleman , Jessie Cameron , Hernan Gonorazky , Nesrin Sabha , Paula Oliveira , Kimberly Amburgey , Azizia Wahedi , Dahai Wang , Michael Shy , James J Dowling

Réseau de co-auteurs

Michael Shy 3 collaborations

Pietro Fratta 1 collaboration

Francesca Ornaghi 1 collaboration

Gabriele Dati 1 collaboration

Desirée Zambroni 1 collaboration

Paola Saveri 1 collaboration

Sophie Belin 1 collaboration

Patrizia D'Adamo 1 collaboration

Angelo Quattrini 1 collaboration

M Laura Feltri 1 collaboration

Lawrence Wrabetz 1 collaboration

Riccardo Zuccarino 1 collaboration

Valeria Prada 1 collaboration

Isabella Moroni 1 collaboration

Emanuela Pagliano 1 collaboration

Maria Foscan 1 collaboration

Giulia Robbiano 1 collaboration

Chiara Pisciotta 1 collaboration

Kayla Cornett 1 collaboration

Rosemary Shy 1 collaboration

Angelo Schenone 1 collaboration

Davide Pareyson 1 collaboration

Joshua Burns 1 collaboration

Neal Sondheimer 1 collaboration

Alberto Aleman 1 collaboration

Jessie Cameron 1 collaboration

Hernan Gonorazky 1 collaboration

Nesrin Sabha 1 collaboration

Paula Oliveira 1 collaboration

Kimberly Amburgey 1 collaboration

Azizia Wahedi 1 collaboration

Dahai Wang 1 collaboration

James J Dowling 1 collaboration