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A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem

Journal of genetics, 2020-12, Vol.99 (1), Article 7

2020

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Malformación congénita de seno dural con resolución espontánea

Anales de pediatría (Barcelona, Spain : 2003), 2020-04, Vol.92 (4), p.245-246

2020

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First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL

Human mutation, 2022-10, Vol.43 (10), p.1361-1367

2022

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Actividad cerebral en jóvenes infectados por el virus de la inmunodeficiencia humana por transmisión vertical: estudio piloto de resonancia magnética funcional

Revista de neurologiá, 2021-05, Vol.72 (10), p.343

2021

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Alteraciones del lenguaje en la cerebelitis aguda: más allá de la disartria

Revista de neurologiá, 2017, Vol.64 (1), p.27

2017

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Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency

JIMD reports, 2021-11, Vol.62 (1), p.3-5

2021

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Hipotensión intracraneal idiopática asociada a disrafismo espinal oculto

Revista de neurologiá, 2015, Vol.61 (11), p.524

2015

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Steroids for familial acute necrotizing encephalopathy: A future investment?

Clinical neurology and neurosurgery, 2018-11, Vol.174, p.134-136

2018

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Ictus en pacientes pediátricos con anemia falciforme

Revista de neurologiá, 2014, Vol.59 (4), p.153

2014

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Neurocutaneous Melanosis: An Illustrative Patient

Pediatric neurology, 2014-09, Vol.51 (3), p.468-469

2014

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Mielitis longitudinal como forma de presentación de neurosarcoidosis

Revista de neurologiá, 2010-09, Vol.51 (5), p.302

2010

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Acute Striatal Necrosis in Hemiplegic Migraine With de Novo CACNA1A Mutation

Headache, 2011-11, Vol.51 (10), p.1542-1546

2011

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Apert syndrome: Cranial procedures and brain malformations in a series of patients

Surgical neurology international, 2020-10, Vol.11, p.361, Article 361

2020

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Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

Orphanet journal of rare diseases, 2014-12, Vol.9 (1), p.217-217, Article 217

2014

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Aneurisma micótico intracraneal en lactante con meningitis neumocócica

Enfermedades infecciosas y microbiología clínica, 2017-04, Vol.35 (4), p.267-269

2017

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Idiopathic intracranial hypotension associated with occult spinal dysraphism

Revista de neurologiá, 2015-12, Vol.61 (11), p.524

2015

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Carotid dissection as the cause of perinatal strokes

Revista de neurologiá, 2015-04, Vol.60 (7), p.335

2015

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A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1369-1378

2019

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Disección carotídea como causa de ictus perinatal

Revista de neurologiá, 2015, Vol.60 (7), p.335

2015

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Congenital malformation of dural sinus that resolved spontaneously

Anales de Pediatría, 2020-04, Vol.92 (4), p.245-246

2020

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T-Cell Immune Responses in Newborns and Long-Term Sequelae in Congenital Cytomegalovirus Infection (CYTRIC Study)

The Journal of pediatrics, 2024-09, Vol.272, p.114084, Article 114084

2024

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Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review

Brain & development (Tokyo. 1979), 2018-04, Vol.40 (4), p.348-352

2018

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Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

Journal of human genetics, 2023-08, Vol.68 (8), p.577-577

2023

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Posterior reversible encephalopathy syndrome (PRES): a rare condition after resection of posterior fossa tumors: two new cases and review of the literature

Child's nervous system, 2016-05, Vol.32 (5), p.857-863

2016

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Role of Magnetic Resonance Imaging and Cranial Ultrasonography in Congenital Cytomegalovirus Infection

The Pediatric infectious disease journal, 2019-11, Vol.38 (11), p.1131-1137

2019

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A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem

Malformación congénita de seno dural con resolución espontánea

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL

Actividad cerebral en jóvenes infectados por el virus de la inmunodeficiencia humana por transmisión vertical: estudio piloto de resonancia magnética funcional

Alteraciones del lenguaje en la cerebelitis aguda: más allá de la disartria

Distal phalangeal erythema in an infant with biallelic PDSS1 mutations: Expanding the phenotype of primary Coenzyme Q10 deficiency

Hipotensión intracraneal idiopática asociada a disrafismo espinal oculto

Steroids for familial acute necrotizing encephalopathy: A future investment?

Ictus en pacientes pediátricos con anemia falciforme

Neurocutaneous Melanosis: An Illustrative Patient

Mielitis longitudinal como forma de presentación de neurosarcoidosis

Acute Striatal Necrosis in Hemiplegic Migraine With de Novo CACNA1A Mutation

Apert syndrome: Cranial procedures and brain malformations in a series of patients

Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

Aneurisma micótico intracraneal en lactante con meningitis neumocócica

Idiopathic intracranial hypotension associated with occult spinal dysraphism

Carotid dissection as the cause of perinatal strokes

A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

Disección carotídea como causa de ictus perinatal

Congenital malformation of dural sinus that resolved spontaneously

T-Cell Immune Responses in Newborns and Long-Term Sequelae in Congenital Cytomegalovirus Infection (CYTRIC Study)

Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review

Correction: A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

Posterior reversible encephalopathy syndrome (PRES): a rare condition after resection of posterior fossa tumors: two new cases and review of the literature

Role of Magnetic Resonance Imaging and Cranial Ultrasonography in Congenital Cytomegalovirus Infection

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