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Medicine

D-Index
78
Citations
23133
World Ranking
18016
National Ranking
8981

Overview

Rabi Tawil is affiliated with the University of Rochester Medical Center in the United States. Their research focuses primarily on muscle physiology and disorders, with significant contributions to the study of genetic neurodegenerative diseases and cardiomyopathy.

Their publications span several key areas in biochemistry, genetics, molecular biology, and medicine, with a major emphasis on molecular biology as a subfield.

Frequently covered topics in their work include:

  • Muscle Physiology and Disorders
  • Genetic Neurodegenerative Diseases
  • Cardiomyopathy and Myosin Studies
  • RNA Research and Splicing
  • Muscle activation and electromyography studies
  • Cardiovascular Effects of Exercise
  • Prosthetics and Rehabilitation Robotics

Rabi Tawil has co-authored numerous papers with several researchers, including:

  • Jeffrey Statland
  • Leo H. Wang
  • Stephen J. Tapscott
  • Leann Lewis
  • Katy Eichinger

Their work has been published extensively in the following venues:

  • Neuromuscular Disorders
  • Neurology
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Muscle & Nerve
  • Human Molecular Genetics

Some recent publications by Rabi Tawil include:

  • "Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy," 2022, JAMA
  • "Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies," 2020, Human Molecular Genetics
  • "Facioscapulohumeral muscular dystrophy: the road to targeted therapies," 2023, Nature Reviews Neurology
  • "Mexiletine in Myotonic Dystrophy Type 1," 2020, Neurology
  • "Skeletal muscle regeneration in facioscapulohumeral muscular dystrophy is correlated with pathological severity," 2020, Human Molecular Genetics

Best Publications

  • Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

    Nikki M. Plaster;Rabi Tawil;Martin Tristani-Firouzi;Sonia Canún

  • A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

    Richard J. L. F. Lemmers;Patrick J. van der Vliet;Rinse Klooster;Sabrina Sacconi

  • Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

    Richard J.L.F. Lemmers;Rabi Tawil;Lisa M. Petek;Judit Balog

  • Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

    Martin Tristani-Firouzi;Judy L. Jensen;Matthew R. Donaldson;Valeria Sansone

  • Interferon‐α/β–mediated innate immune mechanisms in dermatomyositis

    Steven A. Greenberg;Jack L. Pinkus;Geraldine S. Pinkus;Travis Burleson

  • A Phase I/II trial of MYO-029 in Adult Subjects with Muscular Dystrophy

    Kathryn R. Wagner;James L. Fleckenstein;Anthony A. Amato;Richard J. Barohn

  • Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

    Louis J. Ptáček;Rabi Tawil;Robert C. Griggs;Andrew G. Engel

  • Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

    Lauren Snider;Linda N. Geng;Richard J. L. F. Lemmers;Michael Kyba

  • Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

    Louis J. Ptáček;Alfred L. George;Robert C. Griggs;Rabi Tawil

  • DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

    Linda N. Geng;Zizhen Yao;Lauren Snider;Abraham P. Fong

  • Andersen's syndrome : potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

    Rabi Tawil;Louis J. Ptacek;Steven G. Pavlakis;Darryl C. DeVivo

  • The primary periodic paralyses: diagnosis, pathogenesis and treatment

    S. L. Venance;S. C. Cannon;D. Fialho;B. Fontaine

  • Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.

    Rabi Tawil;Rabi Tawil;Silvère M van der Maarel;Silvère M van der Maarel;Stephen J Tapscott;Stephen J Tapscott

  • Electrocardiographic Features in Andersen-Tawil Syndrome Patients With KCNJ2 Mutations: Characteristic T-U–Wave Patterns Predict the KCNJ2 Genotype

    Li Zhang;Li Zhang;D. Woodrow Benson;Martin Tristani-Firouzi;Louis J. Ptacek

  • An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients.

    Jessica M. O’Hagen;Allan M. Glanzman;Michael P. McDermott;Patricia A. Ryan

  • Correlating phenotype and genotype in the periodic paralyses

    T. M. Miller;M. R. Dias da Silva;H. A. Miller;H. Kwiecinski

  • Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY Group.

    Rabi Tawil;James Forrester;Robert C. Griggs;Jerry Mendell

  • Andersen's syndrome: a distinct periodic paralysis.

    V. Sansone;R. C. Griggs;G. Meola;L. J. Ptácek

  • Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

    L.J. Ptacek;M.F. Leppert;R. Tawil

  • Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's Syndrome

    N Plaster;R Tawil;M Tristani-Firouzi;S Canun

Frequent Co-Authors

Stephen J. Tapscott
Stephen J. Tapscott Fred Hutchinson Cancer Research Center
Silvère M. van der Maarel
Silvère M. van der Maarel Leiden University Medical Center
Robert C. Griggs
Robert C. Griggs University of Rochester Medical Center
Michael P. McDermott
Michael P. McDermott University of Rochester
Louis J. Ptáček
Louis J. Ptáček University of California, San Francisco
John T. Kissel
John T. Kissel The Ohio State University
Richard J. Barohn
Richard J. Barohn University of Missouri
Charles A. Thornton
Charles A. Thornton University of Rochester Medical Center
Zizhen Yao
Zizhen Yao Allen Institute for Brain Science
Richard S. Finkel
Richard S. Finkel St. Jude Children's Research Hospital

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