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Clara Barbot

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

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Cells|March 25, 2022
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar AtaxiaMariana Santos, Joana Damásio, Susana Carmona, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 25, 2008
Infantile neuroaxonal dystrophy: what's most important for the diagnosis?Inês Carrilho, Manuela Santos, António Guimarães, et al.
JAMA Neurology|April 24, 2013
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence studyPaula Coutinho, Luis Ruano, José L Loureiro, et al.
Medicina Clinica|July 11, 2006
[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier]Aida Ormazabal, Angels García Cazorla, Belén Pérez Dueñas, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 3, 2008
Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation typeTeresa Temudo, Elisabete Ramos, Karin Dias, et al.
Molecular Genetics and Metabolism|January 1, 2008
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC typeCélia Nogueira, Chiara Aiello, Roberto Cerone, et al.
Annals of Neurology|March 24, 2005
Distinguishing the four genetic causes of Jouberts syndrome-related disordersEnza Maria Valente, Sarah E Marsh, Marco Castori, et al.
Brain & Development|February 2, 2010
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypesTeresa Temudo, Mónica Santos, Elisabete Ramos, et al.
Nature Genetics|February 11, 2004
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, et al.
Nature Genetics|January 17, 2012
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJi Eun Lee, Jennifer L Silhavy, Maha S Zaki, et al.
Pageof 2

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

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Cells|March 25, 2022
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar AtaxiaMariana Santos, Joana Damásio, Susana Carmona, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 25, 2008
Infantile neuroaxonal dystrophy: what's most important for the diagnosis?Inês Carrilho, Manuela Santos, António Guimarães, et al.
JAMA Neurology|April 24, 2013
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence studyPaula Coutinho, Luis Ruano, José L Loureiro, et al.
Medicina Clinica|July 11, 2006
[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier]Aida Ormazabal, Angels García Cazorla, Belén Pérez Dueñas, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 3, 2008
Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation typeTeresa Temudo, Elisabete Ramos, Karin Dias, et al.
Molecular Genetics and Metabolism|January 1, 2008
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC typeCélia Nogueira, Chiara Aiello, Roberto Cerone, et al.
Annals of Neurology|March 24, 2005
Distinguishing the four genetic causes of Jouberts syndrome-related disordersEnza Maria Valente, Sarah E Marsh, Marco Castori, et al.
Brain & Development|February 2, 2010
Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypesTeresa Temudo, Mónica Santos, Elisabete Ramos, et al.
Nature Genetics|February 11, 2004
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, et al.
Nature Genetics|January 17, 2012
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the ciliumJi Eun Lee, Jennifer L Silhavy, Maha S Zaki, et al.
Pageof 2