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Mary Kay Koenig

Showing results (61-70 of 82) with videos related to

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Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
Pediatric Neurology|August 14, 2024
Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) TrialLaura S Farach, Melissa A Richard, Aynara C Wulsin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayBettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayBettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
Pediatric Neurology|October 8, 2025
Neurodevelopmental Outcomes From the PREVeNT TrialSarah E O'Kelley, Jamie K Capal, Tarrant O McPherson, et al.
European Journal of Neurology|April 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based StatementsMichelangelo Mancuso, Marcello Bellusci, Valerio Carelli, et al.
Pediatric Neurology|March 29, 2026
Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT StudyTarrant O McPherson, E Martina Bebin, Laura S Farach, et al.
The Lancet. Neurology|August 16, 2024
Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trialStefan Zielen, Thomas Crawford, Luca Benatti, et al.
Cancer Medicine|June 2, 2023
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international expertsRenata Neves, Blanca De Dios Perez, Rafal Panek, et al.
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Pageof 9

Showing results (61-70 of 82) with videos related to

Sort By:
Pageof 9
Orphanet Journal of Rare Diseases|June 30, 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxiaJessica L Zambonin, Allison Bellomo, Hilla Ben-Pazi, et al.
Pediatric Neurology|August 14, 2024
Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) TrialLaura S Farach, Melissa A Richard, Aynara C Wulsin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayBettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 16, 2019
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayBettina E Mucha, Siddharth Banka, Norbert Fonya Ajeawung, et al.
Pediatric Neurology|October 8, 2025
Neurodevelopmental Outcomes From the PREVeNT TrialSarah E O'Kelley, Jamie K Capal, Tarrant O McPherson, et al.
European Journal of Neurology|April 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based StatementsMichelangelo Mancuso, Marcello Bellusci, Valerio Carelli, et al.
Pediatric Neurology|March 29, 2026
Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT StudyTarrant O McPherson, E Martina Bebin, Laura S Farach, et al.
The Lancet. Neurology|August 16, 2024
Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trialStefan Zielen, Thomas Crawford, Luca Benatti, et al.
Cancer Medicine|June 2, 2023
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international expertsRenata Neves, Blanca De Dios Perez, Rafal Panek, et al.
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Pageof 9