Z. Zolkipli-Cunningham

发表

Evaluator Training and Reliability for SMA Global Nusinersen Trials1

R. Finkel, E. Mazzone, A. Mayhew, 2018, Journal of neuromuscular diseases.

Understanding the phenotypic spectrum of ASXL‐related disease: Ten cases and a review of the literature

E. Zackai, D. Licht, E. Marsh, 2021, American journal of medical genetics. Part A.

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy

J. Vockley, F. Scaglia, M. Falk, 2020, Neurology.

Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children

A. Vossough, C. Alves, A. Goldstein, 2020, American Journal of Neuroradiology.

Mitochondrial disease patient motivations and barriers to participate in clinical trials

Marni J. Falk, John L.P. Thompson, Xiaoyang Wang, 2018, PloS one.

The effects of a motorized passive simulated jogging device on descent of the arterial pulse waveform dicrotic notch: A single arm placebo‐controlled cross‐over trial

V. Nadkarni, M. Sackner, J. Adams, 2022, Physiological reports.

Metabolic and Behavioral Features of Acute Hyperpurinergia and the Connection to Autism Spectrum Disorder

Jonathan M. Monk, D. Blake, R. Naviaux, 2020 .

Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.

Marni J. Falk, R. Ganetzky, M. Falk, 2022, Molecular genetics and metabolism.

Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations

Marni J. Falk, R. Ganetzky, M. Falk, 2020, Annals of neurology.

The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders

Marni J. Falk, A. Vossough, A. Goldstein, 2020, American Journal of Neuroradiology.

Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.

Marni J. Falk, M. Falk, G. Shadel, 2018, Annual review of pathology.

Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease

Marni J. Falk, M. Falk, E. McCormick, 2018, Current opinion in pediatrics.

2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

R. Finkel, M. Main, E. Mazzone, 2023, medRxiv.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Sander M Houten, Eric E Schadt, Nathalie Boddaert, 2017, American journal of human genetics.

Development of a Mitochondrial Myopathy-Composite Assessment Tool

Marni J. Falk, R. Ganetzky, M. Falk, 2021, JCSM clinical reports.

Clinical effects of chemical exposures on mitochondrial function.

Marni J. Falk, M. Falk, Zarazuela Zolkipli-Cunningham, 2017, Toxicology.

Metabolic and behavioral features of acute hyperpurinergia and the maternal immune activation mouse model of autism spectrum disorder

Jonathan M. Monk, D. Blake, R. Naviaux, 2021, PloS one.

MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

Marni J. Falk, R. Ganetzky, M. Falk, 2019, Human mutation.

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.

Marni J. Falk, N. Spinner, R. Ganetzky, 2021, Molecular genetics and metabolism.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Katherine R. Smith, M. B. Pereira, A. Need, 2021, Brain : a journal of neurology.

Reply to “Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations”

Marni J. Falk, R. Ganetzky, M. Falk, 2020, Annals of neurology.

Fatigue in primary genetic mitochondrial disease: No rest for the weary

R. Galioto, S. Parikh, M. Koenig, 2019, Neuromuscular Disorders.

Mitochondrial diseases in North America

Marni J. Falk, Kathryn M. Camp, J. Ganesh, 2020, Neurology: Genetics.

Nusinersen Treatment in Adults With Spinal Muscular Atrophy

R. Finkel, M. Wintermark, M. Mcdermott, 2021, Neurology. Clinical practice.

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

Marcella Attimonelli, Lishuang Shen, Jeremy Leipzig, 2016, Human mutation.

258th ENMC international workshop Leigh syndrome spectrum: genetic causes, natural history and preparing for clinical trials 25-27 March 2022, Hoofddorp, Amsterdam, The Netherlands

Marni J. Falk, H. Prokisch, A. Rötig, 2023, Neuromuscular Disorders.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Marni J. Falk, V. Mootha, E. Schadt, 2018, American journal of human genetics.

Erratum: Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome (The American Journal of Human Genetics (2017) 101(2) (239–254) (S0002929717302835) (10.1016/j.ajhg.2017.07.005))

Eric E. Schadt, Nathalie Boddaert, Aleksandra Filipovska, 2018 .

Clinical effects of chemical exposures on mitochondrial function.

Marni J. Falk, Z. Zolkipli-Cunningham, 2017, Toxicology.

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Marni J. Falk, Lishuang Shen, B. Harding, 2023, Annals of neurology.

Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life

Marni J. Falk, R. Ganetzky, E. McCormick, 2023, Neurotherapeutics.

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

Marni J. Falk, M. Attimonelli, Lishuang Shen, 2016, Human mutation.

Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.

M. Scoto, Claudio Bruno, D. D. De Vivo, 2024, Neurology. Clinical practice.