Concepedia

Author

Jennifer Friedman

Children’s InstituteORCID

Also Known As

Jennifer Friedman, Jennifer R. Friedman, Mario Mastrangelo

24

Publications

604

Citations

11

H-Index

25

Concepts

All Affiliations

Children’s InstituteUniversity Hospital HeidelbergRady Children's Hospital-San DiegoInstituto de Salud Carlos IIINational and Kapodistrian University of Athens
JF

About

Jennifer Friedman is an author at Children’s Institute specializing in medicine, movement disorders, and rehabilitation.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

3

3

102

2

Health Sciences

1

1

29

3

Applied Physiology

1

1

29

4

Exercise Physiology

1

1

29

5

Kinesiology

1

1

29

Jennifer Friedman

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9

Publications

391

Citations

9

H-Index

YearCitations

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

Jennifer Friedman, Emmanuel Roze, José E. Abdenur,

Annals of Neurology

2011

154

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

Thomas Opladen, Elisenda Cortès‐Saladelafont, Mario Mastrangelo,

Molecular Genetics and Metabolism Reports

2016

59

Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency

Jennifer Friedman, Keith Hyland, Nenad Blau,

Neurology

2006

50

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

Oya Kuseyri Hübschmann, Gabriella Horváth, Elisenda Cortès‐Saladelafont,

Nature Communications

2021

37

Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia

Jennifer Friedman, Annette Feigenbaum, Nathaniel A. Chuang,

Neurology

2017

29

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

Claudia Carducci, Silvia Santagata, Jennifer Friedman,

Molecular Genetics and Metabolism

2015

23

Brain <scp>MR</scp> patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

Oya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman,

Journal of Inherited Metabolic Disease

2021

17

Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity

Alba Tristán‐Noguero, Eva Borràs, Marta Molero-Luís,

Movement Disorders

2020

12

The Face and Features of RNU4-2: A New, Common, Recognizable, Yet Hidden Neurodevelopmental Disorder

Kristen Barbour, Matthew N. Bainbridge, Kristen Wigby,

Pediatric Neurology

2024

10

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