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Magali Periquet

Showing results (11-20 of 18) with videos related to

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American Journal of Medical Genetics|July 13, 2002
Complex relationship between Parkin mutations and Parkinson diseaseAndrew West, Magali Periquet, Sarah Lincoln, et al.
Orphanet Journal of Rare Diseases|January 15, 2020
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe diseaseJorge A Bevilacqua, Maria Del Rosario Guecaimburu Ehuletche, Abayuba Perna, et al.
Brain : a Journal of Neurology|May 24, 2003
Parkin mutations are frequent in patients with isolated early-onset parkinsonismMagali Periquet, Morwena Latouche, Ebba Lohmann, et al.
Molecular Genetics and Metabolism|November 20, 2024
Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trialsJordi Díaz-Manera, Derralynn Hughes, Sevim Erdem-Özdamar, et al.
Human Mutation|July 26, 2019
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe RegistryArnold J J Reuser, Ans T van der Ploeg, Yin-Hsiu Chien, et al.
Annals of Neurology|August 2, 2003
How much phenotypic variation can be attributed to parkin genotype?Ebba Lohmann, Magali Periquet, Vincenzo Bonifati, et al.
Human Molecular Genetics|August 14, 2003
Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouseJean-Michel Itier, Pablo Ibanez, Maria Angeles Mena, et al.
Journal of Neurology|August 16, 2025
Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trialPriya S Kishnani, Jordi Díaz-Manera, Sergey Illarioshkin, et al.
Pageof 2

Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
American Journal of Medical Genetics|July 13, 2002
Complex relationship between Parkin mutations and Parkinson diseaseAndrew West, Magali Periquet, Sarah Lincoln, et al.
Orphanet Journal of Rare Diseases|January 15, 2020
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe diseaseJorge A Bevilacqua, Maria Del Rosario Guecaimburu Ehuletche, Abayuba Perna, et al.
Brain : a Journal of Neurology|May 24, 2003
Parkin mutations are frequent in patients with isolated early-onset parkinsonismMagali Periquet, Morwena Latouche, Ebba Lohmann, et al.
Molecular Genetics and Metabolism|November 20, 2024
Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trialsJordi Díaz-Manera, Derralynn Hughes, Sevim Erdem-Özdamar, et al.
Human Mutation|July 26, 2019
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe RegistryArnold J J Reuser, Ans T van der Ploeg, Yin-Hsiu Chien, et al.
Annals of Neurology|August 2, 2003
How much phenotypic variation can be attributed to parkin genotype?Ebba Lohmann, Magali Periquet, Vincenzo Bonifati, et al.
Human Molecular Genetics|August 14, 2003
Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouseJean-Michel Itier, Pablo Ibanez, Maria Angeles Mena, et al.
Journal of Neurology|August 16, 2025
Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trialPriya S Kishnani, Jordi Díaz-Manera, Sergey Illarioshkin, et al.
Pageof 2