Publications by authors named "Ines Carrilho"

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Tongue tremor in a paediatric patient with essential tremor.
Lénia Silva, Catarina Pinto, Inês Carrilho

BMJ Case Rep· February 2025

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Familial occipital lobe epilepsy associated with GABA receptor variants.
Joana Fonte, Gonçalo Videira, Rui Chorão, Joel Freitas, Inês Carrilho

Seizure· November 2023

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

Clin Genet· July 2021

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Cardiac phenotype in -related syndromes: A multicenter cohort study.
Simona Balestrini, Mohamad A Mikati, Reyes Álvarez-García-Rovés, Michael Carboni, Arsen S Hunanyan, Inês Carrilho

Neurology· November 2020

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Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
Fatima Jaffer, Andreja Avbersek, Rosaria Vavassori, Carmen Fons, Jaume Campistol, Ines Carrilho

Brain· October 2015

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Chronic inflammatory demyelinating polyneuropathy associated with autoimmune hepatitis.
Joana P Domingos, Cristina Garrido, Helena Moreira Silva, Claúdia Monteiro, Ermelinda S Silva, Inês C Carrilho

Pediatr Neurol· September 2014

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The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Hendrik Rosewich, Andreas Ohlenbusch, Peter Huppke, Lars Schlotawa, Martina Baethmann, Inês Carrilho

Neurology· March 2014

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Progressive encephalomyelitis with rigidity and myoclonus: the first pediatric case with glycine receptor antibodies.
Joana Damásio, M Isabel Leite, Ester Coutinho, Patrick Waters, Mark Woodhall, Inês Carrilho

JAMA Neurol· April 2013

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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, Inês Carrilho

Brain Dev· January 2011

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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Wilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, Maike Leferink, Tom Hofste, Inês Carrilho

Brain· March 2010

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Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.
Mónica Santos, Teresa Temudo, Teresa Kay, Inês Carrilho, Ana Medeira

J Child Neurol· January 2009

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

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, Ines Carrilho

Mov Disord· July 2008

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Mitochondrial diseases mimicking neurotransmitter defects.
Angels Garcia-Cazorla, Sofia Duarte, Mercedes Serrano, Andres Nascimento, Aida Ormazabal, Ines Carrilho

Mitochondrion· June 2008

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Bilateral perisylvian polymicrogyria and chromosome 1 anomaly.
Maria do Céu Ribeiro, Susana Gama de Sousa, Manuela Mota Freitas, Inês Carrilho, Isilda Fernandes

Pediatr Neurol· June 2007

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