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Spectrum of brain malformations in fetuses with mild tubulinopathy

Ultrasound in obstetrics & gynecology, 2023-06, Vol.61 (6), p.740-748

2023

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“Virtual patch clamp analysis” for predicting the functional significance of pathogenic variants in sodium channels

Epilepsy research, 2022-10, Vol.186, p.107002-107002, Article 107002

2022

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A clinical diagnostic algorithm for early onset cerebellar ataxia

European journal of paediatric neurology, 2019-09, Vol.23 (5), p.692-706

2019

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PP12.7 – 2536: A new autosomal recessive syndrome of infolded polymicrogyria associated with a severe movement disorder

European journal of paediatric neurology, 2015-05, Vol.19, p.S79-S79

2015

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The Neuropsychological profile of patients with 3-Methylglutaconic aciduria type III, Costeff syndrome

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2015-04, Vol.168B (3), p.197-203

2015

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PP12.9 – 2524: Clinical spectrum of TUBB4A-related disorders: Three patients with different phenotypes and course

European journal of paediatric neurology, 2015-05, Vol.19, p.S79-S79

2015

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P147 – 2569: Adenylosuccinate lyase deficiency presenting as a paroxysmal movement disorder

European journal of paediatric neurology, 2015-05, Vol.19, p.S135-S135

2015

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P145 – 2410: Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A

European journal of paediatric neurology, 2015-05, Vol.19, p.S134-S134

2015

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OP14 – 2647: RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

European journal of paediatric neurology, 2015-05, Vol.19, p.S5-S5

2015

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OP15 – 2728: The epileptic encephalopathy of IQSEC2 mutations

European journal of paediatric neurology, 2015-05, Vol.19, p.S5-S6

2015

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Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Human mutation, 2020-04, Vol.41 (4), p.837-849

2020

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P217 Congenital ataxia and dyskinesia as presenting signs of a de novo CACNA1A mutation

European journal of paediatric neurology, 2009, Vol.13, p.S88-S88

2009

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MDO01 Multiple causes of tonic eye deviations in childhood

European journal of paediatric neurology, 2007, Vol.11, p.24-24

2007

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P181 – 1833 Atypical infantile onset Alexander disease masquerading as a mitochondrial disorder diagnosed by whole exome sequencing

European journal of paediatric neurology, 2013-09, Vol.17, p.S103-S103

2013

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ESP026 Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation

European journal of paediatric neurology, 2007, Vol.11, p.102-102

2007

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P255 – 1787 Optic atrophy plus, a unique phenotype to a known mutation with early onset and rapid progression

European journal of paediatric neurology, 2013-09, Vol.17, p.S123-S123

2013

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O17 – 1786 Exome sequencing reveals heterozygous mutations in the ADCK3 gene in siblings with cerebellar atrophy but extreme phenotypic variability

European journal of paediatric neurology, 2013-09, Vol.17, p.S6-S6

2013

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PP2.1 – 1874 Ohtahara syndrome in two half siblings due to a novel SCN2A mutation

European journal of paediatric neurology, 2013-09, Vol.17, p.S33-S34

2013

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Pediatric Refractory Partial Status Epilepticus Responsive to Topiramate

Journal of child neurology, 2005-03, Vol.20 (3), p.239-241

2005

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ASSOCIATION OF PARIETO-OCCIPITAL POLYMICROGYRIA, CHIARI MALFORMATION TYPE 1 AND SYRINGOMYELIA

Neuropediatrics, 2006, Vol.37 (S 1)

2006

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Antitrust regulators push partnership as alternative to hospital merger

Health care strategic management, 1994-09, Vol.12 (9), p.16

Blumkin, L R

1994

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Neuroprotective effect of weak static magnetic fields in primary neuronal cultures

Neuroscience, 2014-10, Vol.278, p.313-326

2014

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

American journal of human genetics, 2017-11, Vol.101 (5), p.664-685

2017

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Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype―phenotype correlation

Brain (London, England : 1878), 2014-07, Vol.137 (Pt 7), p.1921-1930

2014

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Tracking the Careers of Academic General Pediatric Fellowship Program Graduates: Academic Productivity and Leadership Roles

Academic pediatrics, 2011-05, Vol.11 (3), p.216-223

2011

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Spectrum of brain malformations in fetuses with mild tubulinopathy

“Virtual patch clamp analysis” for predicting the functional significance of pathogenic variants in sodium channels

A clinical diagnostic algorithm for early onset cerebellar ataxia

PP12.7 – 2536: A new autosomal recessive syndrome of infolded polymicrogyria associated with a severe movement disorder

The Neuropsychological profile of patients with 3-Methylglutaconic aciduria type III, Costeff syndrome

PP12.9 – 2524: Clinical spectrum of TUBB4A-related disorders: Three patients with different phenotypes and course

P147 – 2569: Adenylosuccinate lyase deficiency presenting as a paroxysmal movement disorder

P145 – 2410: Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A

OP14 – 2647: RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

OP15 – 2728: The epileptic encephalopathy of IQSEC2 mutations

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

P217 Congenital ataxia and dyskinesia as presenting signs of a de novo CACNA1A mutation

MDO01 Multiple causes of tonic eye deviations in childhood

P181 – 1833 Atypical infantile onset Alexander disease masquerading as a mitochondrial disorder diagnosed by whole exome sequencing

ESP026 Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation

P255 – 1787 Optic atrophy plus, a unique phenotype to a known mutation with early onset and rapid progression

O17 – 1786 Exome sequencing reveals heterozygous mutations in the ADCK3 gene in siblings with cerebellar atrophy but extreme phenotypic variability

PP2.1 – 1874 Ohtahara syndrome in two half siblings due to a novel SCN2A mutation

Pediatric Refractory Partial Status Epilepticus Responsive to Topiramate

ASSOCIATION OF PARIETO-OCCIPITAL POLYMICROGYRIA, CHIARI MALFORMATION TYPE 1 AND SYRINGOMYELIA

Antitrust regulators push partnership as alternative to hospital merger

Neuroprotective effect of weak static magnetic fields in primary neuronal cultures

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype―phenotype correlation

Tracking the Careers of Academic General Pediatric Fellowship Program Graduates: Academic Productivity and Leadership Roles

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