Maria R. Johnson - Concepedia

Author

Maria R. Johnson

Johns Hopkins University

Also Known As

M.R. Johnson, Maria Johnson, Maria R. Johnson

Publications

247

Citations

H-Index

Concepts

All Affiliations

Johns Hopkins University University of Minnesota Institut d'Investigació Biomédica de Bellvitge University of Minnesota Medical Center Centre for Biomedical Network Research on Rare Diseases

About

Maria R. Johnson is an author at Johns Hopkins University specializing in medicine, social sciences, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	184
2	Social Sciences	3	3	99
3	Neurology	2	2	73
4	Health Sciences	1	1	43
5	Nephrology	1	1	42

Maria R. Johnson

Publications

246

Citations

H-Index

Page 1

	Year	Citations
Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy Leah Fleming, Monica E. Lemmon, Natalie Beck, American Journal of Medical Genetics Part A	2015	47
Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study Carlos Casasnovas, Montserrat Ruíz, Agatha Schlüter, Neurotherapeutics Metabolic DisorderLipid PeroxidationMetabolomic ProfilingBiomarker IdentificationPharmacotherapy	2019	43
Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria Hilary J. Vernon, Celide Koerner, Maria R. Johnson, Molecular Genetics and Metabolism Sapropterin DihydrochlorideUrologyMedicineRenal PathologyChronic Kidney Disease	2010	42
A diversified approach for PKU treatment: Routine screening yields high incidence of psychiatric distress in phenylketonuria clinics Barbara K. Burton, Lauren Leviton, Hazel Vespa, Molecular Genetics and Metabolism Psychiatric EvaluationPsychiatryClinical PsychologyDiversified ApproachTreatment Option	2012	38
<i>De novo</i> loss of function mutations in <i><scp>KIAA2022</scp></i> are associated with epilepsy and neurodevelopmental delay in females Rachel Webster, Megan T. Cho, Kyle Retterer, Clinical Genetics NeurogenomicsBrain DevelopmentKiaa2022 MutationsGeneticsGenetic Epidemiology	2016	31
Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine Laura A. Foster, Maria R. Johnson, John T. MacDonald, Pediatric Neurology Neurobiology Of DiseaseNeurological DisorderExperimental NeuropathologyPediatricsScn2a Mutation Responsive	2016	30
The Dynamics of a Genetic Counseling Peer Supervision Group Katie L. Lewis, Lori A.H. Erby, Amanda L. Bergner, Journal of Genetic Counseling	2016	15

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