Maura Ruzhnikov

Affiliations

Department of Neurology, Stanford University School of Medicine, Lucile Packard Children's Hospital, Stanford, California, USA.

Publications (5)

MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.

Journal of inherited metabolic disease

Avec: Eric J Mallack , Bela R Turk , Helena Yan , Carrie Price , Michelle Demetres , Ann B Moser , Catherine Becker , Kim Hollandsworth , Laura Adang , Adeline Vanderver , Keith Van Haren , Maura Ruzhnikov , Joanne Kurtzberg , Gustavo Maegawa , Paul J Orchard , Troy C Lund , Gerald V Raymond , Molly Regelmann , Joseph J Orsini , Elisa Seeger , Stephan Kemp , Florian Eichler , Ali Fatemi

The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).

Human mutation

Avec: Gijs A C Franken , Dominik Müller , Cyril Mignot , Boris Keren , Jonathan Lévy , Anne-Claude Tabet , David Germanaud , María-Isabel Tejada , Hester Y Kroes , Rutger A J Nievelstein , Elise Brimble , Maria Ruzhnikov , Felix Claverie-Martin , Maria Szczepańska , Martin Ćuk , Femke Latta , Martin Konrad , Luis A Martínez-Cruz , René J M Bindels , Joost G J Hoenderop , Karl-Peter Schlingmann , Jeroen H F de Baaij

De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.

Movement disorders : official journal of the Movement Disorder Society

Avec: Ignacio J Keller Sarmiento , Bernabe I Bustos , Joanna Blackburn , Nicholas E F Hac , Maura Ruzhnikov , Matthea Monroe , Rebecca J Levy , Lisa Kinsley , Megan Li , Vincenzo Silani , Steven J Lubbe , Dimitri Krainc , Niccolò E Mencacci

Use of electronic medical record templates improves quality of care for patients with infantile spasms.

Health information management : journal of the Health Information Management Association of Australia

Avec: Jonathan D Santoro , Amanda G Sandoval Karamian , Maura Ruzhnikov , Elise Brimble , Whitney Chadwick , Courtney J Wusthoff

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Molecular genetics and metabolism

Avec: Laura Ann Adang , Samuel Groeschel , Chloe Grzyb , Russell D'Aiello , Francesco Gavazzi , Omar Sherbini , Nowa Bronner , Akshilkumar Patel , Ariel Vincent , Anjana Sevagamoorthy , Sylvia Mutua , Kayla Muirhead , Johanna Schmidt , Amy Pizzino , Emily Yu , Danielle Jin , Florian Eichler , Jamie L Fraser , Lisa Emrick , Keith Van Haren , Jean-Martin Boulanger , Maura Ruzhnikov , Michel Sylvain , Cam-Tu Émilie Nguyen , Ana Potic , Stephanie Keller , Ali Fatemi , Eloise Uebergang , Michele Poe , Pouneh Amir Yazdani , John Bernat , Kristen Lindstrom , Joshua L Bonkowsky , Genevieve Bernard , Chloe A Stutterd , Paul Orchard , Ashish O Gupta , Merete Ljungberg , Sabine Groenborg , Alberto Zambon , Sara Locatelli , Francesca Fumagalli , Saskia Elguen , Christiane Kehrer , Ingeborg Krägeloh-Mann , Justine Shults , Adeline Vanderver , Maria L Escolar

Réseau de co-auteurs

Adeline Vanderver 2 collaborations

Keith Van Haren 2 collaborations

Florian Eichler 2 collaborations

Ali Fatemi 2 collaborations

Elise Brimble 2 collaborations

Eric J Mallack 1 collaboration

Bela R Turk 1 collaboration

Helena Yan 1 collaboration

Carrie Price 1 collaboration

Michelle Demetres 1 collaboration

Ann B Moser 1 collaboration

Catherine Becker 1 collaboration

Kim Hollandsworth 1 collaboration

Laura Adang 1 collaboration

Joanne Kurtzberg 1 collaboration

Gustavo Maegawa 1 collaboration

Paul J Orchard 1 collaboration

Troy C Lund 1 collaboration

Gerald V Raymond 1 collaboration

Molly Regelmann 1 collaboration

Joseph J Orsini 1 collaboration

Elisa Seeger 1 collaboration

Stephan Kemp 1 collaboration

Gijs A C Franken 1 collaboration

Dominik Müller 1 collaboration

Cyril Mignot 1 collaboration

Boris Keren 1 collaboration

Jonathan Lévy 1 collaboration

Anne-Claude Tabet 1 collaboration

David Germanaud 1 collaboration

María-Isabel Tejada 1 collaboration

Hester Y Kroes 1 collaboration

Rutger A J Nievelstein 1 collaboration

Maria Ruzhnikov 1 collaboration

Felix Claverie-Martin 1 collaboration

Maria Szczepańska 1 collaboration

Martin Ćuk 1 collaboration

Femke Latta 1 collaboration

Martin Konrad 1 collaboration

Luis A Martínez-Cruz 1 collaboration

René J M Bindels 1 collaboration

Joost G J Hoenderop 1 collaboration

Karl-Peter Schlingmann 1 collaboration

Jeroen H F de Baaij 1 collaboration

Ignacio J Keller Sarmiento 1 collaboration

Bernabe I Bustos 1 collaboration

Joanna Blackburn 1 collaboration

Nicholas E F Hac 1 collaboration

Matthea Monroe 1 collaboration

Rebecca J Levy 1 collaboration

Lisa Kinsley 1 collaboration

Megan Li 1 collaboration

Vincenzo Silani 1 collaboration

Steven J Lubbe 1 collaboration

Dimitri Krainc 1 collaboration

Niccolò E Mencacci 1 collaboration

Jonathan D Santoro 1 collaboration

Amanda G Sandoval Karamian 1 collaboration

Whitney Chadwick 1 collaboration

Courtney J Wusthoff 1 collaboration

Laura Ann Adang 1 collaboration

Samuel Groeschel 1 collaboration

Chloe Grzyb 1 collaboration

Russell D'Aiello 1 collaboration

Francesco Gavazzi 1 collaboration

Omar Sherbini 1 collaboration

Nowa Bronner 1 collaboration

Akshilkumar Patel 1 collaboration

Ariel Vincent 1 collaboration

Anjana Sevagamoorthy 1 collaboration

Sylvia Mutua 1 collaboration

Kayla Muirhead 1 collaboration

Johanna Schmidt 1 collaboration

Amy Pizzino 1 collaboration

Emily Yu 1 collaboration

Danielle Jin 1 collaboration

Jamie L Fraser 1 collaboration

Lisa Emrick 1 collaboration

Jean-Martin Boulanger 1 collaboration

Michel Sylvain 1 collaboration

Cam-Tu Émilie Nguyen 1 collaboration

Ana Potic 1 collaboration

Stephanie Keller 1 collaboration

Eloise Uebergang 1 collaboration

Michele Poe 1 collaboration

Pouneh Amir Yazdani 1 collaboration

John Bernat 1 collaboration

Kristen Lindstrom 1 collaboration

Joshua L Bonkowsky 1 collaboration

Genevieve Bernard 1 collaboration

Chloe A Stutterd 1 collaboration

Paul Orchard 1 collaboration

Ashish O Gupta 1 collaboration

Merete Ljungberg 1 collaboration

Sabine Groenborg 1 collaboration

Alberto Zambon 1 collaboration

Sara Locatelli 1 collaboration

Francesca Fumagalli 1 collaboration

Saskia Elguen 1 collaboration

Christiane Kehrer 1 collaboration

Ingeborg Krägeloh-Mann 1 collaboration

Justine Shults 1 collaboration

Maria L Escolar 1 collaboration