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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Brain (London, England : 1878), 2015-06, Vol.138 (Pt 6), p.1613-1628

2015

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Human induced pluripotent stem cell-derived cortical neurons integrate in stroke-injured cortex and improve functional recovery

Brain (London, England : 1878), 2013-12, Vol.136 (Pt 12), p.3561-3577

2013

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ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

Brain (London, England : 1878), 2021-05, Vol.144 (5), p.1435-1450

2021

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Layer-Specific Markers as Probes for Neuron Type Identity in Human Neocortex and Malformations of Cortical Development

Journal of neuropathology and experimental neurology, 2007-02, Vol.66 (2), p.101-109

Hevner, Robert F

2007

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Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia

Acta neuropathologica, 2012-05, Vol.123 (5), p.695-709

2012

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The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis

Acta neuropathologica, 2005-09, Vol.110 (3), p.208-221

Hevner, Robert F

2005

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Dystroglycan on Radial Glia End Feet Is Required for Pial Basement Membrane Integrity and Columnar Organization of the Developing Cerebral Cortex

Journal of neuropathology and experimental neurology, 2012-12, Vol.71 (12), p.1047-1063

2012

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Glial injury in neurotoxicity after pediatric CD19‐directed chimeric antigen receptor T cell therapy

Annals of neurology, 2019-07, Vol.86 (1), p.42-54

2019

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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

JAMA neurology, 2016-07, Vol.73 (7), p.836

2016

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TERT promoter C228T mutation in neural progenitors confers growth advantage following telomere shortening in vivo

Neuro-oncology (Charlottesville, Va.), 2022-12, Vol.24 (12), p.2063-2075

2022

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Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy

Annals of neurology, 2014-01, Vol.75 (1), p.22-32

2014

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Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

Journal of neuropathology and experimental neurology, 2014-11, Vol.73 (11), p.1009-1025

2014

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A patient with Huntington’s disease and long-surviving fetal neural transplants that developed mass lesions

Acta neuropathologica, 2009-03, Vol.117 (3), p.329-338

2009

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Progress on pontocerebellar hypoplasia

Acta neuropathologica, 2007-10, Vol.114 (4), p.401-402

Hevner, Robert F

2007

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Development of Connections in the Human Visual System During Fetal Mid-Gestation: A DiI-Tracing Study

Journal of neuropathology and experimental neurology, 2000-05, Vol.59 (5), p.385-392

HEVNER, ROBERT F

2000

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Meningeal gyrations

Annals of neurology, 2010-10, Vol.68 (4), p.421-423

2010

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Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III

Acta neuropathologica, 2011-04, Vol.121 (4), p.545-554

2011

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The Middle Interhemispheric Variant of Holoprosencephaly

American journal of neuroradiology, 2002-01, Vol.23 (1), p.151-155

2002

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MARCH 2004: A 24‐YEAR‐OLD WOMAN WITH BIFRONTAL HEADACHES

Brain pathology (Zurich, Switzerland), 2004-07, Vol.14 (3), p.341-343

2004

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Aberrant neuronal-glial differentiation in Taylor-type focal cortical dysplasia (type IIA/B)

Acta neuropathologica, 2005-05, Vol.109 (5), p.519-533

2005

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NeuN expression correlates with reduced mitotic index of neoplastic cells in central neurocytomas

Neuropathology and applied neurobiology, 2005-08, Vol.31 (4), p.429-438

2005

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Mixed arteriovenous malformation and capillary telangiectasia: a rare subset of mixed vascular malformations. Case report

Journal of neurosurgery, 1997-04, Vol.86 (4), p.699-703

1997

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Pena-Shokeir phenotype associated with bilateral opercular polymicrogyria

Pediatric neurology, 1996-11, Vol.15 (4), p.348-351

1996

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Brain (London, England : 1878), 2017-10, Vol.140 (10), p.2610-2622

2017

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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Human induced pluripotent stem cell-derived cortical neurons integrate in stroke-injured cortex and improve functional recovery

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

Layer-Specific Markers as Probes for Neuron Type Identity in Human Neocortex and Malformations of Cortical Development

Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia

The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis

Dystroglycan on Radial Glia End Feet Is Required for Pial Basement Membrane Integrity and Columnar Organization of the Developing Cerebral Cortex

Glial injury in neurotoxicity after pediatric CD19‐directed chimeric antigen receptor T cell therapy

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

TERT promoter C228T mutation in neural progenitors confers growth advantage following telomere shortening in vivo

Glial localization of antiquitin: Implications for pyridoxine-dependent epilepsy

Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

A patient with Huntington’s disease and long-surviving fetal neural transplants that developed mass lesions

Progress on pontocerebellar hypoplasia

Development of Connections in the Human Visual System During Fetal Mid-Gestation: A DiI-Tracing Study

Meningeal gyrations

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III

The Middle Interhemispheric Variant of Holoprosencephaly

MARCH 2004: A 24‐YEAR‐OLD WOMAN WITH BIFRONTAL HEADACHES

Aberrant neuronal-glial differentiation in Taylor-type focal cortical dysplasia (type IIA/B)

NeuN expression correlates with reduced mitotic index of neoplastic cells in central neurocytomas

Mixed arteriovenous malformation and capillary telangiectasia: a rare subset of mixed vascular malformations. Case report

Pena-Shokeir phenotype associated with bilateral opercular polymicrogyria

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

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