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Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

Molecular genetics and metabolism, 2010-04, Vol.99 (4), p.358-366

2010

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Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

Brain & development (Tokyo. 1979), 2009-01, Vol.31 (1), p.46-51

2009

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Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations

Neurology, 2007-04, Vol.68 (15), p.1183-1187

2007

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Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome

Neuropediatrics, 2007-08, Vol.38 (4), p.179-183

2007

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Cerebral sinovenous thrombosis in children: Clinical presentation and extension, localization and recanalization of thrombosis

European journal of paediatric neurology, 2010-01, Vol.14 (1), p.80-85

2010

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Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype

Anales de pediatría (Barcelona, Spain : 2003), 2014-11, Vol.81 (5), p.289-296

2014

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Tongue biting and sudden limb movements during sleep in childhood - are we talking about epilepsy? Not always

Sleep medicine, 2022-12, Vol.100, p.S152

2022

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Sturge-Weber syndrome -clinical and neuroimaging variability

Anales de pediatría (Barcelona, Spain : 2003), 2012-12, Vol.77 (6), p.397-402

2012

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Transient benign paroxysmal movement disorders in infancy

Revista de neurologiá, 2022-02, Vol.74 (4), p.135

2022

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Two novel functional mutations in the Na+,K+-ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes

Clinical genetics, 2008-01, Vol.73 (1), p.37-43

2008

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Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention

Anales de pediatría (Barcelona, Spain : 2003), 2010-03, Vol.72 (3), p.191-198

2010

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Primary headache with onset in childhood and adolescence: natural history and prognostic factors in a Portuguese population

Revista de neurologiá, 2023-01, Vol.76 (1), p.9-14

2023

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Brain MRI in the Decision for Liver Transplantation in Pediatric Neurological Wilson's Disease

Movement disorders clinical practice (Hoboken, N.J.), 2022-10, Vol.9 (7), p.941-948

2022

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Genomic imbalances defining novel intellectual disability associated loci

Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.164-164, Article 164

2019

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Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene

International journal of developmental neuroscience, 2015-11, Vol.46 (1), p.82-87

2015

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P198 – 1805 Paroxysmal dyskinesias in children

European journal of paediatric neurology, 2013-09, Vol.17, p.S108-S108

2013

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P248 – 1722 Hand stereotypies in Rett syndrome and autism – a preliminary comparative study using video motion analysis

European journal of paediatric neurology, 2013-09, Vol.17, p.S121-S121

2013

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P195 – 1860 Status dystonicus in children: report of eight cases

European journal of paediatric neurology, 2013-09, Vol.17, p.S107-S107

2013

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Paroxysmal dyskinesias in children

Revista de neurologiá, 2004-01, Vol.38 (1), p.53-57

Temudo, T

2004

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Esclerosis tuberosa: caracterización clínica e intento de correlación fenotipo/genotipo

Anales de pediatría (Barcelona, Spain : 2003), 2014-11, Vol.81 (5), p.289-296

2014

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Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome

Archives of disease in childhood, 1996-03, Vol.74 (3), p.242-243

1996

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Movement disorders in Rett syndrome

Revista de neurologiá, 2005-01, Vol.40 Suppl 1, p.S167-S171

Temudo, T

2005

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Tuberous sclerosis: Clinical characteristics and their relationship to genotype/phenotype

Anales de Pediatría, 2014-11, Vol.81 (5), p.289-296

2014

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Maple syrup disease presenting as paroxysmal dystonia

Annals of neurology, 2004-11, Vol.56 (5), p.749-750

2004

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Síndrome de Sturge-Weber: variabilidad clínica y de neuroimagen

Anales de pediatría (Barcelona, Spain : 2003), 2012-12, Vol.77 (6), p.397-402

2012

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Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations

Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome

Cerebral sinovenous thrombosis in children: Clinical presentation and extension, localization and recanalization of thrombosis

Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype

Tongue biting and sudden limb movements during sleep in childhood - are we talking about epilepsy? Not always

Sturge-Weber syndrome -clinical and neuroimaging variability

Transient benign paroxysmal movement disorders in infancy

Two novel functional mutations in the Na+,K+-ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes

Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention

Primary headache with onset in childhood and adolescence: natural history and prognostic factors in a Portuguese population

Brain MRI in the Decision for Liver Transplantation in Pediatric Neurological Wilson's Disease

Genomic imbalances defining novel intellectual disability associated loci

Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene

P198 – 1805 Paroxysmal dyskinesias in children

P248 – 1722 Hand stereotypies in Rett syndrome and autism – a preliminary comparative study using video motion analysis

P195 – 1860 Status dystonicus in children: report of eight cases

Paroxysmal dyskinesias in children

Esclerosis tuberosa: caracterización clínica e intento de correlación fenotipo/genotipo

Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome

Movement disorders in Rett syndrome

Tuberous sclerosis: Clinical characteristics and their relationship to genotype/phenotype

Maple syrup disease presenting as paroxysmal dystonia

Síndrome de Sturge-Weber: variabilidad clínica y de neuroimagen

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