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Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Nature communications, 2015-07, Vol.6 (1), p.7623-7623, Article 7623

2015

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Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1

Brain & development (Tokyo. 1979), 2021-01, Vol.43 (1), p.144-151

2021

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Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability

Journal of human genetics, 2018-11, Vol.63 (11), p.1189-1193

2018

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A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder

BMC pediatrics, 2024-01, Vol.24 (1), p.47-47, Article 47

2024

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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Orphanet journal of rare diseases, 2014-05, Vol.9 (1), p.72-72, Article 72

2014

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Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature

European journal of medical genetics, 2020-04, Vol.63 (4), p.103800-103800, Article 103800

2020

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A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

Journal of pediatric genetics (Birmingham, Ala.), 2021-06, Vol.10 (2), p.159-163

2021

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Spectrum of Neurodevelopmental Disabilities: A Cohort Study in Hungary

Journal of child neurology, 2015-03, Vol.30 (3), p.344-356

2015

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The clinical manifestations of two novel SPAST mutations

Clinical neurology and neurosurgery, 2015-09, Vol.136, p.82-85

2015

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Hydrogen is neuroprotective and preserves cerebrovascular reactivity in asphyxiated newborn pigs

Pediatric research, 2010-07, p.1

2010

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Cerebroprotective effects of the CO-releasing molecule CORM-A1 against seizure-induced neonatal vascular injury

American journal of physiology. Heart and circulatory physiology, 2007-10, Vol.293 (4), p.H2501-H2507

2007

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Comparison of hypercapnia‐ and acetazolamide‐induced cerebrovascular responses in piglets

The FASEB journal, 2006-03, Vol.20 (4), p.A293-A293

2006

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Secretory phospholipase A 2 inhibitor PX-18 preserves microvascular reactivity after cerebral ischemia in piglets

Microvascular research, 2009, Vol.78 (2), p.212-217

2009

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Secretory phospholipase A2 inhibitor PX-18 preserves microvascular reactivity after cerebral ischemia in piglets

Microvascular research, 2009-09, Vol.78 (2), p.212-217

2009

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Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient

Ideggyógyászati szemle, 2023-01, Vol.76 (1-2), p.63-72

2023

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Epileptic seizures increase circulating endothelial cells in peripheral blood as early indicators of cerebral vascular damage

American journal of physiology. Heart and circulatory physiology, 2010-06, Vol.298 (6), p.H1687-H1698

2010

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Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1

Brain & development, 2021, Vol.43 (1), p.144-151

2021

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Hydrogen is Neuroprotective and Preserves Cerebrovascular Reactivity in Asphyxiated Newborn Pigs

Pediatric research, 2010-11, Vol.68 (5), p.387-392

2010

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Seizure-Induced Alterations in Cerebrovascular Function in the Neonate

Developmental neuroscience, 2008-01, Vol.30 (5), p.293-305

2008

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A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

Journal of pediatric genetics, 2021, Vol.10 (2), p.159-163

2021

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Epileptic seizures increase circulating endothelial cells in peripheral blood as early indicators of cerebral vascular damage

American journal of physiology. Heart and circulatory physiology, 2010, Vol.67 (6)

2010

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Increase in circulating endothelial cells correlates with vascular dysfunction caused by epileptic seizures

The FASEB journal, 2006-03, Vol.20 (4), p.A732-A733

2006

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PACAP and VIP differentially preserve neurovascular reactivity after global cerebral ischemia in newborn pigs

Brain research, 2009-08, Vol.1283, p.50-57

2009

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Pituitary adenylate cyclase activating polypeptide (PACAP) preserves pial arteriolar dilation to hypercapnia and N‐methyl‐D‐aspartate (NMDA) after global cerebral ischemia in piglets

The FASEB journal, 2008-03, Vol.22 (S1)

2008

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Reventilation with room air or 100% oxygen after asphyxia differentially affects cerebral neuropathology in newborn pigs

Acta Paediatrica, 2006-09, Vol.95 (9), p.1109-1115

2006

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Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability

A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature

A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

Spectrum of Neurodevelopmental Disabilities: A Cohort Study in Hungary

The clinical manifestations of two novel SPAST mutations

Hydrogen is neuroprotective and preserves cerebrovascular reactivity in asphyxiated newborn pigs

Cerebroprotective effects of the CO-releasing molecule CORM-A1 against seizure-induced neonatal vascular injury

Comparison of hypercapnia‐ and acetazolamide‐induced cerebrovascular responses in piglets

Secretory phospholipase A 2 inhibitor PX-18 preserves microvascular reactivity after cerebral ischemia in piglets

Secretory phospholipase A2 inhibitor PX-18 preserves microvascular reactivity after cerebral ischemia in piglets

Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient

Epileptic seizures increase circulating endothelial cells in peripheral blood as early indicators of cerebral vascular damage

Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1

Hydrogen is Neuroprotective and Preserves Cerebrovascular Reactivity in Asphyxiated Newborn Pigs

Seizure-Induced Alterations in Cerebrovascular Function in the Neonate

A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia

Epileptic seizures increase circulating endothelial cells in peripheral blood as early indicators of cerebral vascular damage

Increase in circulating endothelial cells correlates with vascular dysfunction caused by epileptic seizures

PACAP and VIP differentially preserve neurovascular reactivity after global cerebral ischemia in newborn pigs

Pituitary adenylate cyclase activating polypeptide (PACAP) preserves pial arteriolar dilation to hypercapnia and N‐methyl‐D‐aspartate (NMDA) after global cerebral ischemia in piglets

Reventilation with room air or 100% oxygen after asphyxia differentially affects cerebral neuropathology in newborn pigs

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