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Mario Saporta

Showing results (11-20 of 22) with videos related to

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Brain : a Journal of Neurology|March 27, 2024
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insightsAdriana P Rebelo, Clemer Abad, Maike F Dohrn, et al.
Stem Cell Research|July 2, 2026
Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
European Journal of Neurology|September 29, 2023
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataractsAndrea Cortese, Riccardo Currò, Riccardo Ronco, et al.
Neurodegenerative Disease Management|October 22, 2020
Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle studyFlorian P Thomas, Mario Saporta, Shahram Attarian, et al.
Experimental & Molecular Medicine|June 2, 2024
Advances and challenges in modeling inherited peripheral neuropathies using iPSCsJonas Van Lent, Robert Prior, Gonzalo Pérez Siles, et al.
Journal of the Peripheral Nervous System : JPNS|April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1AIsaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Brain : a Journal of Neurology|May 12, 2023
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signsAdriana P Rebelo, Pedro J Tomaselli, Jessica Medina, et al.
Brain : a Journal of Neurology|June 28, 2024
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severityDanique Beijer, Maike F Dohrn, Adriana Rebelo, et al.
Brain : a Journal of Neurology|January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Shawna M E Feely, James M Polke, et al.
Neurology|February 13, 2020
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scoresVera Fridman, Stefan Sillau, Gyula Acsadi, et al.
Pageof 3

Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
Brain : a Journal of Neurology|March 27, 2024
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insightsAdriana P Rebelo, Clemer Abad, Maike F Dohrn, et al.
Stem Cell Research|July 2, 2026
Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B)David Pellerin, Adriana Rebelo, Mohammad Faraz Zafeer, et al.
European Journal of Neurology|September 29, 2023
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataractsAndrea Cortese, Riccardo Currò, Riccardo Ronco, et al.
Neurodegenerative Disease Management|October 22, 2020
Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle studyFlorian P Thomas, Mario Saporta, Shahram Attarian, et al.
Experimental & Molecular Medicine|June 2, 2024
Advances and challenges in modeling inherited peripheral neuropathies using iPSCsJonas Van Lent, Robert Prior, Gonzalo Pérez Siles, et al.
Journal of the Peripheral Nervous System : JPNS|April 6, 2024
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1AIsaac R L Xu, Matt C Danzi, Ariel Ruiz, et al.
Brain : a Journal of Neurology|May 12, 2023
Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signsAdriana P Rebelo, Pedro J Tomaselli, Jessica Medina, et al.
Brain : a Journal of Neurology|June 28, 2024
A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severityDanique Beijer, Maike F Dohrn, Adriana Rebelo, et al.
Brain : a Journal of Neurology|January 8, 2021
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre studyMenelaos Pipis, Shawna M E Feely, James M Polke, et al.
Neurology|February 13, 2020
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scoresVera Fridman, Stefan Sillau, Gyula Acsadi, et al.
Pageof 3