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Pedro J Tomaselli

Showing results (1-10 of 27) with videos related to

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Current Opinion in Neurology|September 2, 2016
Recent advances in the genetic neuropathiesAlexander M Rossor, Pedro J Tomaselli, Mary M Reilly
Journal of the Peripheral Nervous System : JPNS|March 10, 2018
Severe cognitive impairment in a patient with CMT2APedro J Tomaselli, Mahima Kapoor, Andrea Cortese, et al.
Journal of the Peripheral Nervous System : JPNS|March 2, 2016
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counsellingPedro J Tomaselli, Alexander M Rossor, James M Polke, et al.
Journal of the Peripheral Nervous System : JPNS|August 24, 2017
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorderPedro J Tomaselli, Alexander M Rossor, Alejandro Horga, et al.
Neuromuscular Disorders : NMD|November 3, 2018
IGHMBP2 mutation associated with organ-specific autonomic dysfunctionPedro J Tomaselli, Alejandro Horga, Alexander M Rossor, et al.
Journal of the Peripheral Nervous System : JPNS|May 24, 2019
New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth diseaseSilmara P Gouvea, Pedro J Tomaselli, Luiza S Barretto, et al.
Journal of Neurology|July 22, 2015
Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathiesAlejandro Horga, Ellen Cottenie, Pedro J Tomaselli, et al.
Journal of the Peripheral Nervous System : JPNS|April 30, 2020
High glucose level as a modifier factor in CMT1A patientsJuliana B Secchin, Rita C C Leal, Charles M Lourenço, et al.
Neurology|September 16, 2016
SIGMAR1 mutation associated with autosomal recessive Silver-like syndromeAlejandro Horga, Pedro J Tomaselli, Michael A Gonzalez, et al.
Neurology|December 13, 2019
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth diseaseAndrea Cortese, Janel E Wilcox, James M Polke, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Current Opinion in Neurology|September 2, 2016
Recent advances in the genetic neuropathiesAlexander M Rossor, Pedro J Tomaselli, Mary M Reilly
Journal of the Peripheral Nervous System : JPNS|March 10, 2018
Severe cognitive impairment in a patient with CMT2APedro J Tomaselli, Mahima Kapoor, Andrea Cortese, et al.
Journal of the Peripheral Nervous System : JPNS|March 2, 2016
Semi-dominant mutations in MFN2-related neuropathy and implications for genetic counsellingPedro J Tomaselli, Alexander M Rossor, James M Polke, et al.
Journal of the Peripheral Nervous System : JPNS|August 24, 2017
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorderPedro J Tomaselli, Alexander M Rossor, Alejandro Horga, et al.
Neuromuscular Disorders : NMD|November 3, 2018
IGHMBP2 mutation associated with organ-specific autonomic dysfunctionPedro J Tomaselli, Alejandro Horga, Alexander M Rossor, et al.
Journal of the Peripheral Nervous System : JPNS|May 24, 2019
New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth diseaseSilmara P Gouvea, Pedro J Tomaselli, Luiza S Barretto, et al.
Journal of Neurology|July 22, 2015
Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathiesAlejandro Horga, Ellen Cottenie, Pedro J Tomaselli, et al.
Journal of the Peripheral Nervous System : JPNS|April 30, 2020
High glucose level as a modifier factor in CMT1A patientsJuliana B Secchin, Rita C C Leal, Charles M Lourenço, et al.
Neurology|September 16, 2016
SIGMAR1 mutation associated with autosomal recessive Silver-like syndromeAlejandro Horga, Pedro J Tomaselli, Michael A Gonzalez, et al.
Neurology|December 13, 2019
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth diseaseAndrea Cortese, Janel E Wilcox, James M Polke, et al.
Pageof 3