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Clara Barbot

Showing results (1-10 of 20) with videos related to

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Acta Medica Portuguesa|December 15, 2010
[Cerebellar hypoplasias]Marta Maia Safronova, Clara Barbot, Jorge Resende Pereira
Movement Disorders : Official Journal of the Movement Disorder Society|June 12, 2023
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPASTJoana Damásio, Clara Barbot, Rui Felgueiras, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|May 11, 2022
Childhood-Onset Writer's Cramp in Hereditary Spastic Paraplegia Type 15João Moura, Ana Sardoeira, Jorge Oliveira, et al.
Journal of Clinical Medicine|April 29, 2020
Novel <i>MAG</i> Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical PhenotypeMariana Santos, Joana Damásio, Célia Kun-Rodrigues, et al.
Biochemical and Biophysical Research Communications|February 3, 2007
Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathyCristina Pereira, Celia Nogueira, Clara Barbot, et al.
Journal of Inherited Metabolic Disease|February 25, 2011
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new casesEsmeralda Martins, M Luis Cardoso, Esmeralda Rodrigues, et al.
American Journal of Human Genetics|March 3, 2015
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4Jose Bras, Isabel Alonso, Clara Barbot, et al.
European Journal of Pediatrics|July 31, 2007
Outcome of three cases of untreated maternal glutaric aciduria type IPaula Garcia, Esmeralda Martins, Luísa Diogo, et al.
Pediatric Neurology|April 18, 2003
Inherited and acquired risk factors and their combined effects in pediatric strokeSameiro Barreirinho, Anabela Ferro, Manuela Santos, et al.
Clinical Genetics|March 8, 2021
Congenital ataxia due to novel variant in ATP8A2Joana Damásio, Diana Santos, Sara Morais, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Acta Medica Portuguesa|December 15, 2010
[Cerebellar hypoplasias]Marta Maia Safronova, Clara Barbot, Jorge Resende Pereira
Movement Disorders : Official Journal of the Movement Disorder Society|June 12, 2023
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPASTJoana Damásio, Clara Barbot, Rui Felgueiras, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|May 11, 2022
Childhood-Onset Writer's Cramp in Hereditary Spastic Paraplegia Type 15João Moura, Ana Sardoeira, Jorge Oliveira, et al.
Journal of Clinical Medicine|April 29, 2020
Novel <i>MAG</i> Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical PhenotypeMariana Santos, Joana Damásio, Célia Kun-Rodrigues, et al.
Biochemical and Biophysical Research Communications|February 3, 2007
Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathyCristina Pereira, Celia Nogueira, Clara Barbot, et al.
Journal of Inherited Metabolic Disease|February 25, 2011
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new casesEsmeralda Martins, M Luis Cardoso, Esmeralda Rodrigues, et al.
American Journal of Human Genetics|March 3, 2015
Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4Jose Bras, Isabel Alonso, Clara Barbot, et al.
European Journal of Pediatrics|July 31, 2007
Outcome of three cases of untreated maternal glutaric aciduria type IPaula Garcia, Esmeralda Martins, Luísa Diogo, et al.
Pediatric Neurology|April 18, 2003
Inherited and acquired risk factors and their combined effects in pediatric strokeSameiro Barreirinho, Anabela Ferro, Manuela Santos, et al.
Clinical Genetics|March 8, 2021
Congenital ataxia due to novel variant in ATP8A2Joana Damásio, Diana Santos, Sara Morais, et al.
Pageof 2