Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Cyril Goizet

Showing results (111-120 of 173) with videos related to

Pageof 18
Sort By:
Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.
Brain : a Journal of Neurology|May 15, 2009
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril Goizet, Amir Boukhris, Alexandra Durr, et al.
Annals of Neurology|April 5, 2016
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseasesConceição Bettencourt, Davina Hensman-Moss, Michael Flower, et al.
The Journal of Molecular Diagnostics : JMD|May 25, 2018
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin GenesReda Zenagui, Delphine Lacourt, Henri Pegeot, et al.
Journal of Neurology|June 28, 2020
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disordersDaniele Mandia, Marion Plaze, Isabelle Le Ber, et al.
Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
Brain : a Journal of Neurology|April 27, 2017
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathiesMarie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, et al.
Neurobiology of Disease|June 5, 2013
Association between caffeine intake and age at onset in Huntington's diseaseClémence Simonin, Cécile Duru, Julia Salleron, et al.
International Journal of Pediatric Otorhinolaryngology|July 13, 2010
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueductLaurence Jonard, Magali Niasme-Grare, Crystel Bonnet, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2012
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille Gras, Laurence Jonard, Emmanuel Roze, et al.
Pageof 18

Showing results (111-120 of 173) with videos related to

Sort By:
Pageof 18
Human Mutation|October 17, 2017
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56Christelle M Durand, Laura Dhers, Christelle Tesson, et al.
Brain : a Journal of Neurology|May 15, 2009
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril Goizet, Amir Boukhris, Alexandra Durr, et al.
Annals of Neurology|April 5, 2016
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseasesConceição Bettencourt, Davina Hensman-Moss, Michael Flower, et al.
The Journal of Molecular Diagnostics : JMD|May 25, 2018
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin GenesReda Zenagui, Delphine Lacourt, Henri Pegeot, et al.
Journal of Neurology|June 28, 2020
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disordersDaniele Mandia, Marion Plaze, Isabelle Le Ber, et al.
Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
Brain : a Journal of Neurology|April 27, 2017
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathiesMarie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, et al.
Neurobiology of Disease|June 5, 2013
Association between caffeine intake and age at onset in Huntington's diseaseClémence Simonin, Cécile Duru, Julia Salleron, et al.
International Journal of Pediatric Otorhinolaryngology|July 13, 2010
Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueductLaurence Jonard, Magali Niasme-Grare, Crystel Bonnet, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 27, 2012
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille Gras, Laurence Jonard, Emmanuel Roze, et al.
Pageof 18