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Author/Creator Shy, Michael E

2. Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A. Issue 11 (31st August 2017)

Authors:
Fledrich, Robert; Mannil, Manoj; Leha, Andreas; Ehbrecht, Caroline; Solari, Alessandra; Pelayo-Negro, Ana L; Berciano, José; Schlotter-Weigel, Beate; Schnizer, Tuuli J; Prukop, Thomas; Garcia-Angarita, Natalia; Czesnik, Dirk; Haberlová, Jana; Mazanec, Radim; Paulus, Walter; Beissbarth, Tim; Walte...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 88:Issue 11(2017)
Page Start:
941
Record Type:
Journal Article
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3. Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease. Issue 5 (9th February 2022)

Authors:
Yiu, Eppie M; Bray, Paula; Baets, Jonathan; Baker, Steven K; Barisic, Nina; de Valle, Katy; Estilow, Timothy; Farrar, Michelle A; Finkel, Richard S; Haberlová, Jana; Kennedy, Rachel A; Moroni, Isabella; Nicholson, Garth A; Ramchandren, Sindhu; Reilly, Mary M; Rose, Kristy; Shy, Michael E; Siskind...
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 93:Issue 5(2022)
Page Start:
530
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. MFN2 mutations in Charcot–Marie–Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics. (11th January 2019)

Authors:
Larrea, Delfina; Pera, Marta; Gonnelli, Adriano; Quintana–Cabrera, Rubén; Akman, H Orhan; Guardia-Laguarta, Cristina; Velasco, Kevin R; Area-Gomez, Estela; Dal Bello, Federica; De Stefani, Diego; Horvath, Rita; Shy, Michael E; Schon, Eric A; Giacomello, Marta
Journal:
Human molecular genetics
Issue:
Volume 28:Number 11(2019)
Page Start:
1782
Record Type:
Journal Article
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8. Peripheral neuropathy in complex inherited diseases: an approach to diagnosis. Issue 10 (9th August 2017)

Authors:
Rossor, Alexander M; Carr, Aisling S; Devine, Helen; Chandrashekar, Hoskote; Pelayo-Negro, Ana Lara; Pareyson, Davide; Shy, Michael E; Scherer, Steven S; Reilly, Mary M
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 88:Issue 10(2017)
Page Start:
846
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

10. Validation of the Italian version of the pediatric CMT quality of life outcome measure. Issue 2 (3rd May 2022)

Authors:
Moroni, Isabella; Danti, Federica Rachele; Pareyson, Davide; Pagliano, Emanuela; Piscosquito, Giuseppe; Foscan, Maria; Marchi, Alessia; Ardissone, Anna; Genitrini, Silvia; Wu, Tong Tong; Shy, Michael E; Ramchandren, Sindhu
Journal:
Journal of the peripheral nervous system
Issue:
Volume 27:Issue 2(2022)
Page Start:
127
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗