Publications by authors named "Clara Barbot"

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Childhood-Onset Writer's Cramp in Hereditary Spastic Paraplegia Type 15.
João Moura, Ana Sardoeira, Jorge Oliveira, Alexandre Mendes, José Barros, Clara Barbot

Can J Neurol Sci· May 2023

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Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Joana Damásio, Clara Barbot, Rui Felgueiras, Ana Filipa Brandão, José Barros

Mov Disord· May 2023

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Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
Mariana Santos, Joana Damásio, Susana Carmona, João Luís Neto, Nadia Dehghani, Clara Barbot

Cells· March 2022

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Congenital ataxia due to novel variant in ATP8A2.
Joana Damásio, Diana Santos, Sara Morais, José Brás, Rita Guerreiro, Clara Barbot

Clin Genet· July 2021

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Novel Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype.
Mariana Santos, Joana Damásio, Célia Kun-Rodrigues, Clara Barbot, Jorge Sequeiros

J Clin Med· April 2020

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Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4.
Jose Bras, Isabel Alonso, Clara Barbot, Maria Manuela Costa, Lee Darwent

Am J Hum Genet· March 2015

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Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.
Paula Coutinho, Luis Ruano, José L Loureiro, Vitor T Cruz, José Barros, Clara Barbot

JAMA Neurol· June 2013

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CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Ji Eun Lee, Jennifer L Silhavy, Maha S Zaki, Jana Schroth, Stephanie L Bielas, Clara Barbot

Nat Genet· January 2012

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Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.
Esmeralda Martins, M Luis Cardoso, Esmeralda Rodrigues, Clara Barbot, Altina Ramos

J Inherit Metab Dis· June 2011

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[Cerebellar hypoplasias].
Marta Maia Safronova, Clara Barbot, Jorge Resende Pereira

Acta Med Port· March 2011

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Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.
Teresa Temudo, Mónica Santos, Elisabete Ramos, Karin Dias, José Pedro Vieira, Clara Barbot

Brain Dev· January 2011

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Infantile neuroaxonal dystrophy: what's most important for the diagnosis?
Inês Carrilho, Manuela Santos, António Guimarães, João Teixeira, Rui Chorão, Clara Barbot

Eur J Paediatr Neurol· November 2008

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Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type.
Teresa Temudo, Elisabete Ramos, Karin Dias, Clara Barbot, Jose P Vieira

Mov Disord· July 2008

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Outcome of three cases of untreated maternal glutaric aciduria type I.
Paula Garcia, Esmeralda Martins, Luísa Diogo, Hugo Rocha, Ana Marcão, Clara Barbot

Eur J Pediatr· May 2008

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Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Célia Nogueira, Chiara Aiello, Roberto Cerone, Esmeralda Martins, Ubaldo Caruso, Clara Barbot

Mol Genet Metab· April 2008

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Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.
Cristina Pereira, Celia Nogueira, Clara Barbot, Alessandra Tessa, Carla Soares

Biochem Biophys Res Commun· March 2007

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[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, Mercé Pineda, Angeles Ruiz, Clara Barbot

Med Clin (Barc)· June 2006

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Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Enza Maria Valente, Sarah E Marsh, Marco Castori, Tracy Dixon-Salazar, Enrico Bertini, Clara Barbot

Ann Neurol· April 2005

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Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, Andrea H Németh, Isabelle Le Ber, Clara Barbot

Nat Genet· March 2004

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Inherited and acquired risk factors and their combined effects in pediatric stroke.
Sameiro Barreirinho, Anabela Ferro, Manuela Santos, E lísio Costa, Jorge Pinto-Basto, Clara Barbot, José Barbot

Pediatr Neurol· February 2003

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