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Miglustat in Niemann-Pick disease type C patients: a review

Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.140-140, Article 140

2018

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Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

International journal of molecular sciences, 2019-08, Vol.20 (16), p.3925

2019

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Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

Human genetics, 2016-12, Vol.135 (12), p.1343-1354

2016

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Plasma coenzyme Q10 status is impaired in selected genetic conditions

Scientific reports, 2019-01, Vol.9 (1), p.793-793, Article 793

2019

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Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-445, Article 445

2021

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Recommendations on the diagnosis and management of Niemann-Pick disease type C

Molecular genetics and metabolism, 2009-10, Vol.98 (1), p.152-165

2009

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Plasma idebenone monitoring in Friedreich’s ataxia patients during a long-term follow-up

Biomedicine & pharmacotherapy, 2021-11, Vol.143, p.112143-112143, Article 112143

2021

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iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

EMBO molecular medicine, 2023-03, Vol.15 (3), p.e15847-n/a

2023

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Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

Clinical genetics, 2020-02, Vol.97 (2), p.264-275

2020

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Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

Human molecular genetics, 2013-11, Vol.22 (21), p.4349-4356

2013

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Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

International journal of molecular sciences, 2020-01, Vol.21 (2), p.518

2020

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Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry

The world journal of biological psychiatry, 2019-04, Vol.20 (4), p.310-319

2019

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Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Frontiers in immunology, 2019, Vol.10, p.1264-1264

2019

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Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Scientific reports, 2021-09, Vol.11 (1), p.18146-18146, Article 18146

2021

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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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Disease and patient characteristics in NP-C patients: findings from an international disease registry

Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.12-12

2013

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Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e793-n/a

2019

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Comprehensive Analysis of GABA A -A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

International journal of molecular sciences, 2020-01, Vol.21 (2)

2020

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Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

Metabolic brain disease, 2016-06, Vol.31 (3), p.705-709

2016

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Mutation loads in different tissues from six pathogenic mtDNA point mutations

Mitochondrion, 2015-05, Vol.22, p.17-22

2015

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Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up

European journal of paediatric neurology, 2008-11, Vol.12 (6), p.470-475

2008

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Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain

Molecular genetics and metabolism, 2009-05, Vol.97 (1), p.60-64

2009

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Hearing Loss in a Patient With the Myopathic Form of Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 Gene

Pediatric research, 2010-08, Vol.68 (2), p.151-154

2010

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Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders

Journal of inherited metabolic disease, 2010-12, Vol.33 (6), p.803-809

2010

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Miglustat in Niemann-Pick disease type C patients: a review

Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

Plasma coenzyme Q10 status is impaired in selected genetic conditions

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

Recommendations on the diagnosis and management of Niemann-Pick disease type C

Plasma idebenone monitoring in Friedreich’s ataxia patients during a long-term follow-up

iPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation

Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?

Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry

Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

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

Disease and patient characteristics in NP-C patients: findings from an international disease registry

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

Comprehensive Analysis of GABA A -A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

Mutation loads in different tissues from six pathogenic mtDNA point mutations

Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up

Nonsense-mediated mRNA decay process in nine alleles of Niemann-Pick type C patients from Spain

Hearing Loss in a Patient With the Myopathic Form of Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 Gene

Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders

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