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GFAP mutations, age at onset, and clinical subtypes in Alexander disease

Neurology, 2011-09, Vol.77 (13), p.1287-1294

2011

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Improving health-related quality of life in middle-age children with cerebral palsy following selective percutaneous myofascial lengthening and functional physiotherapy

Revista española de cirugía ortopédica y traumatología, 2024-01, Vol.68 (1), p.57-63

2024

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Lipid profile and thyroid hormone concentrations in children with epilepsy treated with oxcarbazepine monotherapy: a prospective long-term study

European journal of neurology, 2014-01, Vol.21 (1), p.118-123

2014

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Epileptic characteristics and sleep architecture of drug naïve patients in childhood absence epilepsy spectrum. A prospective study

European journal of paediatric neurology, 2017-06, Vol.21, p.e183-e183

2017

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The evaluation of BTX-A treatment on dystonic-opisthotonus cerebral palsy patients, using the goal attainment scaling tool

European journal of paediatric neurology, 2017-06, Vol.21, p.e231-e232

2017

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Video-EEG recordings of epileptic episodes in hot water induced epilepsy with modified electrode placement

European journal of paediatric neurology, 2017-06, Vol.21, p.e107-e107

2017

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A novel familial mutation in Alexander disease with marked variation in clinical severity

European journal of paediatric neurology, 2017-06, Vol.21, p.e59-e60

2017

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Spinocerebellar ataxia type 29 in 2 siblings manifesting as coQ10 deficiency

European journal of paediatric neurology, 2017-06, Vol.21, p.e58-e58

2017

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Natural and lesion-induced apoptosis in the dorsal lateral geniculate nucleus during development

Brain research, 2010-07, Vol.1344, p.62-76

2010

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Cerebral palsy features in infants born at 32–36 weeks in relation to neonatal morbidity

European journal of paediatric neurology, 2017-06, Vol.21, p.e70-e70

2017

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Whole exome sequencing in the diagnosis of neuropaediatric diseases

European journal of paediatric neurology, 2017-06, Vol.21, p.e56-e56

2017

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P95 – 3007: Late onset treatment on Menkes disease with a novel single nucleotide deletion in the ATP7A gene

European journal of paediatric neurology, 2015-05, Vol.19, p.S121-S121

2015

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Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults

Neurology, 2005-04, Vol.64 (7), p.1255-1257

2005

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Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology

Neurology, 2007-07, Vol.69 (2), p.166-171

2007

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Postnatal development of the dopaminergic system of the striatum in the rat

Neuroscience, 2002-01, Vol.110 (2), p.245-256

2002

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PLP1 gene analysis in 88 patients with leukodystrophy

Clinical genetics, 2013-12, Vol.84 (6), p.566-571

2013

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UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Neurology, 2017-10, Vol.89 (17), p.1821-1828

2017

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Natural and lesion-induced apoptosis in the rat striatum during development

Brain research, 2009-02, Vol.1252, p.30-44

2009

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Familial occurrence of calcifying epithelioma of Malherbe

International journal of dermatology, 2010-12, Vol.49 (12), p.1456-1457

2010

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Brain MRI and proton MRS findings in infants and children with respiratory chain defects

Neuropediatrics, 2005-10, Vol.36 (5), p.290

2005

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Rapamycin causes regression of astrocytomas in tuberous sclerosis complex

Annals of neurology, 2006-03, Vol.59 (3), p.490-498

2006

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Discrepancy Between Neuroimaging Findings and Clinical Phenotype in Alexander Disease

American Journal of Neuroradiology, 2006-11, Vol.27 (10), p.2088-2092

2006

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Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece

European journal of pediatrics, 2019-03, Vol.178 (3), p.323-329

2019

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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

Orphanet journal of rare diseases, 2015-05, Vol.10 (1), p.65-65, Article 65

2015

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[Artículo traducido] Mejora de la calidad de vida relacionada con la salud en niños de mediana edad con parálisis cerebral después de un alargamiento miofascial percutáneo selectivo y fisioterapia funcional

Revista española de cirugía ortopédica y traumatología, 2024-01, Vol.68 (1), p.T57-T63

2024

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GFAP mutations, age at onset, and clinical subtypes in Alexander disease

Improving health-related quality of life in middle-age children with cerebral palsy following selective percutaneous myofascial lengthening and functional physiotherapy

Lipid profile and thyroid hormone concentrations in children with epilepsy treated with oxcarbazepine monotherapy: a prospective long-term study

Epileptic characteristics and sleep architecture of drug naïve patients in childhood absence epilepsy spectrum. A prospective study

The evaluation of BTX-A treatment on dystonic-opisthotonus cerebral palsy patients, using the goal attainment scaling tool

Video-EEG recordings of epileptic episodes in hot water induced epilepsy with modified electrode placement

A novel familial mutation in Alexander disease with marked variation in clinical severity

Spinocerebellar ataxia type 29 in 2 siblings manifesting as coQ10 deficiency

Natural and lesion-induced apoptosis in the dorsal lateral geniculate nucleus during development

Cerebral palsy features in infants born at 32–36 weeks in relation to neonatal morbidity

Whole exome sequencing in the diagnosis of neuropaediatric diseases

P95 – 3007: Late onset treatment on Menkes disease with a novel single nucleotide deletion in the ATP7A gene

Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults

Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology

Postnatal development of the dopaminergic system of the striatum in the rat

PLP1 gene analysis in 88 patients with leukodystrophy

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Natural and lesion-induced apoptosis in the rat striatum during development

Familial occurrence of calcifying epithelioma of Malherbe

Brain MRI and proton MRS findings in infants and children with respiratory chain defects

Rapamycin causes regression of astrocytomas in tuberous sclerosis complex

Discrepancy Between Neuroimaging Findings and Clinical Phenotype in Alexander Disease

Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study

[Artículo traducido] Mejora de la calidad de vida relacionada con la salud en niños de mediana edad con parálisis cerebral después de un alargamiento miofascial percutáneo selectivo y fisioterapia funcional

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