Ai Sakonju

Affiliations

Department of Neurology SUNY Upstate Medical University Syracuse New York.

ORCID: https://orcid.org/0000-0003-1678-2177

Publications (7)

Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18.

Clinical case reports

Avec: Dawn Brianna Lammert , David Miedema , Josiree Ochotorena , Nienke Dosa , Kalliopi Petropoulou , Roger Robert Lebel ,

Role of Electroencephalogram (EEG) and Magnetic Resonance Imaging (MRI) Findings in Early Recognition and Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 Disease.

Journal of child neurology

Avec: Mai-Lan Ho , Elaine C Wirrell , Kalliopi Petropoulou , Dorna Chu , Guillermo Seratti , Susan Palasis

Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Denise M Kay , Colleen F Stevens , April Parker , Carlos A Saavedra-Matiz , Virginia Sack , Wendy K Chung , Claudia A Chiriboga , Kristin Engelstad , Emma Laureta , Osman Farooq , Emma Ciafaloni , Bo Hoon Lee , Sohail Malek , Simona Treidler , Yaacov Anziska , Leslie Delfiner , Michele Caggana

Pediatric fibrocartilaginous spine embolism induced by trauma.

Radiology case reports

Avec: Neveada Raventhiranathan , Kalliopi Petropoulou , Dmitriy Bakrukov , Kavya Mirchia

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

American journal of human genetics

Avec: Jacob R Stolz , Kendall M Foote , Hermine E Veenstra-Knol , Rolph Pfundt , Sanne W Ten Broeke , Nicole de Leeuw , Laura Roht , Sander Pajusalu , Reelika Part , Ionella Rebane , Katrin Õunap , Zornitza Stark , Edwin P Kirk , John A Lawson , Sebastian Lunke , John Christodoulou , Raymond J Louie , R Curtis Rogers , Jessica M Davis , A Micheil Innes , Xing-Chang Wei , Boris Keren , Cyril Mignot , Robert Roger Lebel , Steven M Sperber , Nienke Dosa , Daniela Q C M Barge-Schaapveld , Cacha M P C D Peeters-Scholte , Claudia A L Ruivenkamp , Bregje W van Bon , Joanna Kennedy , Karen J Low , Sian Ellard , Lewis Pang , Joseph J Junewick , Paul R Mark , Gemma L Carvill , Geoffrey T Swanson

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Adam J Guenzel , Coleman T Turgeon , Kim K Nickander , Amy L White , Dawn S Peck , Gisele B Pino , April L Studinski , Vinod K Prasad , Joanne Kurtzberg , Maria L Escolar , Maria Laura Duque Lasio , Joan E Pellegrino , Rachel E Hickey , Natalie M Shallow , Margie A Ream , Joseph J Orsini , Michael H Gelb , Kimiyo Raymond , Dimitar K Gavrilov , Devin Oglesbee , Piero Rinaldo , Silvia Tortorelli , Dietrich Matern

Newborn Screening for Spinal Muscular Atrophy in New York State: Clinical Outcomes From the First 3 Years.

Neurology

Avec: Bo Hoon Lee , Stella Deng , Claudia A Chiriboga , Denise M Kay , Obehioya Irumudomon , Emma Laureta , Leslie Delfiner , Simona O Treidler , Yaacov Anziska , Chelsea Kois , Osman Farooq , Kristin Engelstad , Alexandra Laurenzano , Katherine Hogan , Michele Caggana , Carlos A Saavedra-Matiz , Colleen F Stevens , Emma Ciafaloni

Réseau de co-auteurs

Kalliopi Petropoulou 3 collaborations

Nienke Dosa 2 collaborations

Denise M Kay 2 collaborations

Colleen F Stevens 2 collaborations

Carlos A Saavedra-Matiz 2 collaborations

Claudia A Chiriboga 2 collaborations

Kristin Engelstad 2 collaborations

Emma Laureta 2 collaborations

Osman Farooq 2 collaborations

Emma Ciafaloni 2 collaborations

Bo Hoon Lee 2 collaborations

Yaacov Anziska 2 collaborations

Leslie Delfiner 2 collaborations

Michele Caggana 2 collaborations

Dawn Brianna Lammert 1 collaboration

David Miedema 1 collaboration

Josiree Ochotorena 1 collaboration

Roger Robert Lebel 1 collaboration

Mai-Lan Ho 1 collaboration

Elaine C Wirrell 1 collaboration

Dorna Chu 1 collaboration

Guillermo Seratti 1 collaboration

Susan Palasis 1 collaboration

April Parker 1 collaboration

Virginia Sack 1 collaboration

Wendy K Chung 1 collaboration

Sohail Malek 1 collaboration

Simona Treidler 1 collaboration

Neveada Raventhiranathan 1 collaboration

Dmitriy Bakrukov 1 collaboration

Kavya Mirchia 1 collaboration

Jacob R Stolz 1 collaboration

Kendall M Foote 1 collaboration

Hermine E Veenstra-Knol 1 collaboration

Rolph Pfundt 1 collaboration

Sanne W Ten Broeke 1 collaboration

Nicole de Leeuw 1 collaboration

Laura Roht 1 collaboration

Sander Pajusalu 1 collaboration

Reelika Part 1 collaboration

Ionella Rebane 1 collaboration

Katrin Õunap 1 collaboration

Zornitza Stark 1 collaboration

Edwin P Kirk 1 collaboration

John A Lawson 1 collaboration

Sebastian Lunke 1 collaboration

John Christodoulou 1 collaboration

Raymond J Louie 1 collaboration

R Curtis Rogers 1 collaboration

Jessica M Davis 1 collaboration

A Micheil Innes 1 collaboration

Xing-Chang Wei 1 collaboration

Boris Keren 1 collaboration

Cyril Mignot 1 collaboration

Robert Roger Lebel 1 collaboration

Steven M Sperber 1 collaboration

Daniela Q C M Barge-Schaapveld 1 collaboration

Cacha M P C D Peeters-Scholte 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Bregje W van Bon 1 collaboration

Joanna Kennedy 1 collaboration

Karen J Low 1 collaboration

Sian Ellard 1 collaboration

Lewis Pang 1 collaboration

Joseph J Junewick 1 collaboration

Paul R Mark 1 collaboration

Gemma L Carvill 1 collaboration

Geoffrey T Swanson 1 collaboration

Adam J Guenzel 1 collaboration

Coleman T Turgeon 1 collaboration

Kim K Nickander 1 collaboration

Amy L White 1 collaboration

Dawn S Peck 1 collaboration

Gisele B Pino 1 collaboration

April L Studinski 1 collaboration

Vinod K Prasad 1 collaboration

Joanne Kurtzberg 1 collaboration

Maria L Escolar 1 collaboration

Maria Laura Duque Lasio 1 collaboration

Joan E Pellegrino 1 collaboration

Rachel E Hickey 1 collaboration

Natalie M Shallow 1 collaboration

Margie A Ream 1 collaboration

Joseph J Orsini 1 collaboration

Michael H Gelb 1 collaboration

Kimiyo Raymond 1 collaboration

Dimitar K Gavrilov 1 collaboration

Devin Oglesbee 1 collaboration

Piero Rinaldo 1 collaboration

Silvia Tortorelli 1 collaboration

Dietrich Matern 1 collaboration

Stella Deng 1 collaboration

Obehioya Irumudomon 1 collaboration

Simona O Treidler 1 collaboration

Chelsea Kois 1 collaboration

Alexandra Laurenzano 1 collaboration

Katherine Hogan 1 collaboration