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P Rebelo

Showing results (21-30 of 64) with videos related to

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Anais Da Academia Brasileira De Ciencias|February 5, 2005
Screening for CLCN5 mutation in renal calcium stone formers patientsMaria Alice P Rebelo, Vera Tostes, Nordeval C Araújo, et al.
Advanced Biology|November 27, 2024
Assessing Novel Antibody-Based Therapies in Reconstructive 3D Cell Models of the Tumor MicroenvironmentGiacomo Domenici, Nuno F Lopes, Gonçalo Trindade, et al.
Talanta|October 9, 2024
Electrochemical molecularly imprinted polymer sensor for simple and fast analysis of tetrodotoxin in seafoodP Rocha, P Rebelo, J G Pacheco, et al.
Movement Disorders Clinical Practice|March 10, 2025
FIC Domain Protein Adenylyltransferase (FICD)-Related Complex Hereditary Spastic Paraplegia with Diabetes MellitusAdriana P Rebelo, Adel Alawwadh, Ali Hakami, et al.
Journal of the Peripheral Nervous System : JPNS|March 8, 2019
POLG mutations presenting as Charcot-Marie-Tooth diseaseJade Phillips, Steve Courel, Adriana P Rebelo, et al.
Clinical Genetics|November 10, 2019
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutationFabrizia Stregapede, Lorena Travaglini, Adriana P Rebelo, et al.
Neurology. Genetics|December 12, 2018
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotypeNataly I Montes-Chinea, Zhuo Guan, Marcella Coutts, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|July 10, 2024
Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegiaAmanda G Lobato, Natalie Ortiz-Vega, Tijana Canic, et al.
Human Mutation|September 5, 2018
Insights into the genotype-phenotype correlation and molecular function of SLC25A46Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, et al.
Journal of Neurology|February 4, 2023
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth diseaseFeride Cinarli Yuksel, Paschalis Nicolaou, Kerri Spontarelli, et al.
Pageof 7

Showing results (21-30 of 64) with videos related to

Sort By:
Pageof 7
Anais Da Academia Brasileira De Ciencias|February 5, 2005
Screening for CLCN5 mutation in renal calcium stone formers patientsMaria Alice P Rebelo, Vera Tostes, Nordeval C Araújo, et al.
Advanced Biology|November 27, 2024
Assessing Novel Antibody-Based Therapies in Reconstructive 3D Cell Models of the Tumor MicroenvironmentGiacomo Domenici, Nuno F Lopes, Gonçalo Trindade, et al.
Talanta|October 9, 2024
Electrochemical molecularly imprinted polymer sensor for simple and fast analysis of tetrodotoxin in seafoodP Rocha, P Rebelo, J G Pacheco, et al.
Movement Disorders Clinical Practice|March 10, 2025
FIC Domain Protein Adenylyltransferase (FICD)-Related Complex Hereditary Spastic Paraplegia with Diabetes MellitusAdriana P Rebelo, Adel Alawwadh, Ali Hakami, et al.
Journal of the Peripheral Nervous System : JPNS|March 8, 2019
POLG mutations presenting as Charcot-Marie-Tooth diseaseJade Phillips, Steve Courel, Adriana P Rebelo, et al.
Clinical Genetics|November 10, 2019
Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutationFabrizia Stregapede, Lorena Travaglini, Adriana P Rebelo, et al.
Neurology. Genetics|December 12, 2018
Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotypeNataly I Montes-Chinea, Zhuo Guan, Marcella Coutts, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|July 10, 2024
Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegiaAmanda G Lobato, Natalie Ortiz-Vega, Tijana Canic, et al.
Human Mutation|September 5, 2018
Insights into the genotype-phenotype correlation and molecular function of SLC25A46Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, et al.
Journal of Neurology|February 4, 2023
The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth diseaseFeride Cinarli Yuksel, Paschalis Nicolaou, Kerri Spontarelli, et al.
Pageof 7