M. Serrano

发表

Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders

A. Ormazabal, R. Artuch, À. García‐Cazorla, 2013, Developmental medicine and child neurology.

Levodopa‐induced dyskinesias in tyrosine hydroxylase deficiency

B. Cormand, A. Ormazabal, R. Artuch, 2013, Movement disorders : official journal of the Movement Disorder Society.

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

L. Pérez-Jurado, B. Martínez-Delgado, M. O'Callaghan, 2020, Orphanet journal of rare diseases.

Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies

N. Boddaert, J. Corral, V. Vicente, 2019, Journal of thrombosis and haemostasis : JTH.

Rare CACNA1A mutations leading to congenital ataxia

Mercè Izquierdo-Serra, M. Serrano, J. Fernández-Fernández, 2020, Pflügers Archiv - European Journal of Physiology.

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence

M. Serrano, 2021, Frontiers in Pediatrics.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

H. Freeze, F. Tort, Christina Lam, 2020, Journal of inherited metabolic disease.

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

H. Van Esch, J. Armstrong, M. Pineda, 2020, Clinical genetics.

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

B. Cormand, F. Sanmartí, A. Ormazabal, 2010, Journal of Inherited Metabolic Disease.

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

J. González, G. Parra, M. Gut, 2022, The Journal of molecular diagnostics : JMD.

Mental retardation and inborn errors of metabolism

M. Pineda, À. García‐Cazorla, U. Moog, 2009, Journal of Inherited Metabolic Disease.

Guiametabolica.org: empowerment through internet tools in inherited metabolic diseases

Modesta Pousada, Beni Gómez-Zúñiga, R. Artuch, 2012, Orphanet Journal of Rare Diseases.

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency

J. Obeso, C. Depienne, R. Artuch, 2012, Movement disorders : official journal of the Movement Disorder Society.

CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

B. Oliva, C. Ortez, A. Martínez-Monseny, 2021, International journal of molecular sciences.

Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications

F. Cortés, C. Barnérias, C. Castiglioni, 2020, Human mutation.

Parkinsonism and Dystonia Associated with Adalimumab Legends to the Video Deletion in the Tyrosine Hydroxylase Gene in a Patient with a Mild Phenotype

B. Cormand, Wiley Online Library, J. Armstrong, 2022 .

Hypokinetic-rigid syndrome in children and inborn errors of metabolism.

C. Ortez, M. Pineda, À. García‐Cazorla, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Clinical, etiological and therapeutic aspects of cerebral folate deficiency

M. O'Callaghan, R. Artuch, À. García‐Cazorla, 2015, Expert review of neurotherapeutics.

Inborn errors of metabolism and motor disturbances in children

S. Dimauro, M. Pineda, À. García‐Cazorla, 2009, Journal of Inherited Metabolic Disease.

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

G. Marfany, Pedro Seoane, E. Rojano, 2022, Journal of Medical Genetics.

Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report

J. Aparicio, A. Català, J. Hinojosa, 2020, Child's Nervous System.

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

M. Patterson, H. Plotkin, Christina Lam, 2021, Molecular genetics and metabolism.

Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging.

A. Ribes, À. García‐Cazorla, A. Capdevila, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

H. Freeze, M. Patterson, Christina Lam, 2019, Journal of inherited metabolic disease.

Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome.

A. Ormazabal, À. García‐Cazorla, J. Antón, 2009, Pediatric neurology.

Hyaline fibromatosis syndrome: Clinical update and phenotype–genotype correlations

A. García-Alix, B. Pérez-Dueñas, A. Martínez-Monseny, 2018, Human mutation.

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

T. Huisman, A. Poretti, C. Ortez, 2019, Parkinsonism & related disorders.

A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.

B. Cormand, M. Ribasés, A. Ormazabal, 2007, Molecular genetics and metabolism.

Fahr’s syndrome presenting with pure and progressive presenile dementia

N. Fayed, P. Modrego, M. Serrano, 2005, Neurological Sciences.

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

J. Jaeken, B. Pérez-Dueñas, L. Alsina, 2016, PloS one.

Postnatal microcephaly and retinal involvement expand the phenotype of RPL10 ‐related disorder

N. Brunetti‐Pierri, M. Pinelli, I. Scala, 2022, American journal of medical genetics. Part A.

Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders.

A. Ormazabal, R. Artuch, M. Pineda, 2011, Clinical biochemistry.

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

A. Ribes, R. Artuch, N. Darín, 2016, Brain : a journal of neurology.

Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines.

A. Ormazabal, R. Artuch, B. Pérez-Dueñas, 2008, Clinical biochemistry.

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

J. Reiss, R. Artuch, B. Pérez-Dueñas, 2007, Pediatric Radiology.

Thiamine transporter-2 deficiency: outcome and treatment monitoring

R. Artuch, B. Pérez-Dueñas, J. Muchart, 2014, Orphanet Journal of Rare Diseases.

Reversible Lactic Acidosis in a Newborn With Thiamine Transporter-2 Deficiency

R. Artuch, B. Pérez-Dueñas, J. Muchart, 2013, Pediatrics.

Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation

B. Cormand, M. Ribasés, E. Kanavakis, 2010, Movement disorders : official journal of the Movement Disorder Society.

Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects.

A. Ormazabal, R. Artuch, J. Montoya, 2012, Drug discovery today.

Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.

B. Cormand, A. Ormazabal, R. Artuch, 2011, Archives of neurology.

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.

E. Ruiz-Pesini, A. Ormazabal, R. Artuch, 2010 .

Cerebellar Hemorrhage in a Patient with Propionic Acidemia

M. Vilaseca, J. Campistol, M. Serrano, 2009, The Cerebellum.

Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

J. A. Arranz, R. Artuch, P. Briones, 2010, Journal of child neurology.

Epigenetic cerebellar diseases.

M. Serrano, 2018, Handbook of clinical neurology.

Okur‐Chung neurodevelopmental syndrome in a patient from Spain

C. Arjona, A. García-Alix, A. Martínez-Monseny, 2019, American journal of medical genetics. Part A.

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

J. Cigudosa, B. Gener, L. Pérez-Jurado, 2022, Frontiers in Genetics.

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.

S. Duarte, C. Ortez, A. Ormazabal, 2015, Molecular genetics and metabolism.

Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway

J. Emsley, J. Corral, V. Vicente, 2020, Orphanet Journal of Rare Diseases.

Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer

F. M. Jabato, J. Perkins, E. Rojano, 2021, Journal of personalized medicine.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.

Secondary abnormalities of neurotransmitters in infants with neurological disorders

A. Ormazabal, R. Artuch, M. Pineda, 2007, Developmental Medicine & Child Neurology.

Clinical, Analytical, and Etiologic Aspects

B. Cormand, R. Artuch, B. Pérez-Dueñas, 2011 .

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

D. Cuadras, C. Pérez-Cerdá, R. Artuch, 2018, International journal of molecular sciences.

Cerebrospinal Fluid Neopterin Analysis in Neuropediatric Patients: Establishment of a New Cut Off-Value for the Identification of Inflammatory-Immune Mediated Processes

A. Ormazabal, R. Artuch, I. Jordan, 2013, PloS one.

Isotretinoin, Trimethylaminuria and theInternet

M. Vilaseca, M. Serrano, Jaume Pérez-Payarols, 2016 .

Early‐onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

A. Martínez-Monseny, L. Martorell, J. Muchart, 2020, American journal of medical genetics. Part A.

Cloperastine‐based cough syrup and acute dystonic reactions

B. Pérez-Dueñas, M. Villaronga, Mercedes Serrano, 2012, Developmental medicine and child neurology.

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

D. Cuadras, C. Pérez-Cerdá, R. Artuch, 2019, Annals of neurology.

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.

Rafael Artuch, Aida Ormazabal, Keith Hyland, 2008, Molecular genetics and metabolism.

Targeting the Gut Microbiome in Prader-Willi Syndrome

C. Lerin, M. Ramón-Krauel, A. Martínez-Monseny, 2021, Journal of clinical medicine.

A Population‐Based Study on Congenital Disorders of Protein N‐ and Combined with O‐Glycosylation Experience in Clinical and Genetic Diagnosis

C. Pérez-Cerdá, R. Artuch, P. Briones, 2017, The Journal of pediatrics.

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Belén Pérez, Rafael Artuch, Alfons Macaya, 2018, Journal of Medical Genetics.

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

D. Cuadras, C. Pérez-Cerdá, R. Artuch, 2015, Orphanet Journal of Rare Diseases.

Environmental circumstances influencing tic expression in children.

B. Pérez-Dueñas, E. Fernández-Álvarez, J. Campistol, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.

E. Ruiz-Pesini, A. Ormazabal, R. Artuch, 2011, Mitochondrion.

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

N. Baena, G. Antiñolo, S. Gökben, 2019, Scientific Reports.

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

N. Baena, G. Antiñolo, Gábor Csányi, 2017, Scientific Reports.

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

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

J. Jaeken, B. Pérez-Dueñas, L. Alsina, 2016, PloS one.

Mitochondrial diseases mimicking neurotransmitter defects.

S. Duarte, A. Ormazabal, R. Artuch, 2008, Mitochondrion.

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

L. Puelles, B. Cormand, F. Sanmartí, 2010, Journal of Inherited Metabolic Disease.

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

D. Cuadras, B. Pérez-Dueñas, A. Macaya, 2017, Orphanet Journal of Rare Diseases.

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

D. Cuadras, A. Poretti, C. Pérez-Cerdá, 2017, Journal of Inherited Metabolic Disease.

New and potential strategies for the treatment of PMM2-CDG.

B. Pérez, M. Serrano, A. Vilas, 2020, Biochimica et biophysica acta. General subjects.

Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

J. Armstrong, L. Martorell, M. Serrano, 2023, Clinical case reports.

Novel PGM3 compound heterozygous variants with IgE‐related dermatitis, lymphopenia, without syndromic features

J. Lyons, X. Solanich, A. Vlagea, 2020, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

[Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases].

A. Ormazabal, R. Artuch, J. Campistol, 2012, Revista de neurologia.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

D. Timmann, A. Durr, L. Schöls, 2023, American journal of human genetics.

Levodopa therapy in a Lesch‐Nyhan disease patient: Pathological, biochemical, neuroimaging, and therapeutic remarks

T. Klockgether, S. Paus, A. Ormazabal, 2008, Movement disorders : official journal of the Movement Disorder Society.

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

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

B. Cormand, J. Armstrong, A. Ormazabal, 2011, Movement disorders : official journal of the Movement Disorder Society.

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

D. Cuadras, R. Artuch, M. Couce, 2018, Neuropediatrics.

Clinical, etiological and therapeutic aspects of cerebral folate deficiency

R. Artuch, B. Pérez-Dueñas, M. Serrano, 2015, Expert review of neurotherapeutics.

Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood

M. Díaz-Ricart, A. Martínez-Monseny, M. Serrano, 2020, Thrombosis and Haemostasis.

Levodopa therapy in a Lesch‐Nyhan disease patient: Pathological, biochemical, neuroimaging, and therapeutic remarks

A. Ormazabal, R. Artuch, B. Pérez-Dueñas, 2008, Movement disorders : official journal of the Movement Disorder Society.

PERINATAL ASPHYXIA MAY CAUSE REDUCTION IN CSF DOPAMINE METABOLITE CONCENTRATIONS

A. Ormazabal, R. Artuch, B. Pérez-Dueñas, 2007, Neurology.