Tawil, Rabi N: search on Z-Library

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1

Patient-Reported Symptoms in Facioscapulohumeral Muscular Dystrophy (PRISM-FSHD)

Hamel, Johanna, Johnson, Nicholas, Tawil, Rabi, Martens, William B., Dilek, Nuran, McDermott, Michael P., Heatwole, Chad

Journal:

Year:

2019

Language:

english

File:

PDF, 637 KB

english, 2019

2

Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy

Hamel, Johanna, Tawil, Rabi

Journal:

Neurologic Clinics

Year:

2020

File:

PDF, 826 KB

2020

3

A puzzling case of periodic paralysis

Robert C. Griggs, Adam N. Bender, Rabi Tawil

Journal:

Year:

1996

Language:

english

File:

PDF, 256 KB

english, 1996

4

Outlook for Therapy in the Muscular Dystrophies

Journal:

Seminars in Neurology

Year:

1999

Language:

english

File:

PDF, 581 KB

english, 1999

5

K-40 and Dual-Energy X-ray Absorptiometry Estimates of Lean Weight Compared: Normals and Patients with Neuromuscular Disease

GILBERT B. FORBES, ROBERT C. GRIGGS, RICHARD T. MOXLEY III, CHARLES T. THORNTON, RABI TAWIL

Journal:

Annals of the New York Academy of Sciences

Year:

2000

Language:

english

File:

PDF, 1.80 MB

english, 2000

6

Facioscapulohumeral Dystrophy

Wang, Leo H., Tawil, Rabi

Journal:

Current Neurology and Neuroscience Reports

Year:

2016

Language:

english

File:

PDF, 1.28 MB

english, 2016

7

Neuromuscular Disorders (Tawil/Neuromuscular Disorders) || Brachial and Lumbosacral Plexopathies

Tawil, Rabi N., Venance, Shannon

Year:

2011

Language:

english

File:

PDF, 662 KB

english, 2011

8

Post-exercise increment in compound muscle action potential amplitude in hyperkalemic periodic paralysis

Cleland, James C., Tawil, Rabi

Journal:

Clinical Neurophysiology

Year:

2014

Language:

english

File:

PDF, 235 KB

english, 2014

9

Patient-identified disease burden in facioscapulohumeral muscular dystrophy

Johnson, Nicholas E., Quinn, Christine, Eastwood, Eileen, Tawil, Rabi, Heatwole, Chad R.

Journal:

Year:

2012

Language:

english

File:

PDF, 174 KB

english, 2012

10

Corticosteroids in Duchenne muscular dystrophy: Major variations in practice

Griggs, Robert C., Herr, Barbara E., Reha, Allen, Elfring, Gary, Atkinson, Leone, Cwik, Valerie, Mccoll, Elaine, Tawil, Rabi, Pandya, Shree, McDermott, Michael P., Bushby, Kate

Journal:

Year:

2013

Language:

english

File:

PDF, 151 KB

english, 2013

11

Efficacy of prednisone for the treatment of ocular myasthenia (EPITOME): A randomized, controlled trial

Benatar, Michael, Mcdermott, Michael P., Sanders, Donald B., Wolfe, Gil I., Barohn, Richard J., Nowak, Richard J., Hehir, Michael, Juel, Vern, Katzberg, Hans, Tawil, Rabi

Journal:

Year:

2016

Language:

english

File:

PDF, 234 KB

english, 2016

12

Risk of functional impairment in Facioscapulohumeral muscular dystrophy

Statland, Jeffrey M., Tawil, Rabi

Journal:

Year:

2014

Language:

english

File:

PDF, 207 KB

english, 2014

13

A cross sectional study of two independent cohorts identifies serum biomarkers for facioscapulohumeral muscular dystrophy (FSHD)

Petek, Lisa M., Rickard, Amanda M., Budech, Christopher, Poliachik, Sandra L., Shaw, Dennis, Ferguson, Mark R., Tawil, Rabi, Friedman, Seth D., Miller, Daniel G.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 1.70 MB

english, 2016

14

Restrictive lung involvement in facioscapulohumeral muscular dystrophy

Scully, Michele A., Eichinger, Katy J., Donlin-Smith, Colleen M., Tawil, Rabi, Statland, Jeffery M.

Journal:

Year:

2014

Language:

english

File:

PDF, 105 KB

english, 2014

15

The Facioscapulohumeral Muscular Dystrophy Functional Composite Outcome Measure

Eichinger, Katy, Heatwole, Chad, Iyadurai, Stanley, King, Wendy, Baker, Lindsay, Heininger, Susanne, Bartlett, Amy, Dilek, Nuran, Martens, William B, McDermott, Michael, Kissel, John T., Tawil, Rabi,

Journal:

Year:

2018

Language:

english

File:

PDF, 706 KB

english, 2018

16

Skeletal muscle regeneration in Facioscapulohumeral muscular dystrophy is correlated with pathological severity

Banerji, Christopher R S, Henderson, Don, Tawil, Rabi N, Zammit, Peter S

Journal:

Human Molecular Genetics

Year:

2020

File:

PDF, 1.72 MB

2020

17

[Handbook of Clinical Neurology] Neurogenetics, Part II Volume 148 || Facioscapulohumeral muscular dystrophy

Year:

2018

Language:

english

File:

PDF, 634 KB

english, 2018

18

Facioscapulohumeral muscular dystrophy

Rabi Tawil, Silvère M. Van Der Maarel

Journal:

Year:

2006

Language:

english

File:

PDF, 425 KB

english, 2006

19

Monozygotic twins with facioscapulohumeral dystrophy (FSHD): Implications for genotype/phenotype correlation

Robert C. Griggs, Rabi Tawil, Michael McDermott, James Forrester, Denise Figlewicz, Barbara Weiffenbach

Journal:

Year:

1995

Language:

english

File:

PDF, 529 KB

english, 1995

20

Gene expression during normal and FSHD myogenesis

Koji Tsumagari, Shao-Chi Chang, Michelle Lacey, Carl Baribault, Sridar V Chittur, Janet Sowden, Rabi Tawil, Gregory E Crawford, Melanie Ehrlich

Journal:

BMC Medical Genomics

Year:

2011

Language:

english

File:

PDF, 957 KB

english, 2011

21

Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy

Rabi Tawil, Diane Storvick, Barbara Weiffenbach, Michael R. Altherr, Thomas E. Feasby, Robert C. Griggs

Journal:

Year:

1993

Language:

english

File:

PDF, 229 KB

english, 1993

22

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

Klooster, Rinse, Straasheijm, Kirsten, Shah, Bharati, Sowden, Janet, Frants, Rune, Thornton, Charles, Tawil, Rabi, van der Maarel, Silvère

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 369 KB

english, 2009

23

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

Silvère M. van der Maarel, Rabi Tawil, Stephen J. Tapscott

Journal:

Trends in Molecular Medicine

Year:

2011

Language:

english

File:

PDF, 226 KB

english, 2011

24

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)

James E. Hilbert, John T. Kissel, Elizabeth A. Luebbe, William B. Martens, Michael P. McDermott, Donald B. Sanders, Rabi Tawil, Charles A. Thornton, Richard T. Moxley III

Journal:

Contemporary Clinical Trials

Year:

2012

Language:

english

File:

PDF, 472 KB

english, 2012

25

Sex-Related Differences in Gene Expression in Human Skeletal Muscle

Welle, Stephen, Tawil, Rabi, Thornton, Charles A., Fairhead, Cecile

Journal:

Year:

2008

Language:

english

File:

PDF, 154 KB

english, 2008

26

Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments

Hamel, Johanna, Tawil, Rabi

Journal:

Neurotherapeutics

Year:

2018

Language:

english

File:

PDF, 1.08 MB

english, 2018

27

Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy

Statland, Jeffrey M., McDermott, Michael P., Heatwole, Chad, Martens, William B., Pandya, Shree, van der Kooi, E.L., Kissel, John T., Wagner, Kathryn R., Tawil, Rabi

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 542 KB

english, 2013

28

Scapuloperoneal Syndromes

Journal:

Archives of Neurology

Year:

1995

Language:

english

File:

PDF, 1.99 MB

english, 1995

29

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4

Balog, Judit, Thijssen, Peter E., Shadle, Sean, Straasheijm, Kirsten R., Van Der Vliet, Patrick J., Krom, Yvonne D., Van Den Boogaard, Marlinde L., De Jong, Annika, Lemmers, Richard J.L.F, Tawil, Rabi

Journal:

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

30

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease || Facioscapulohumeral Dystrophy

Year:

2015

Language:

english

File:

PDF, 1.61 MB

english, 2015

31

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

Dr. Rabi Tawil, Louis J. Ptacek, Steven G. Pavlakis, Darryl C. DeVivo, Audrey S. Penn, Coskun Özdemir, Robert C. Griggs

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 585 KB

english, 1994

32

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

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

Journal:

Skeletal Muscle

Year:

2014

Language:

english

File:

PDF, 369 KB

english, 2014

33

Genetic and Epigenetic Characteristics of FSHD-Associated 4q and 10q D4Z4 that are Distinct from Non-4q/10q D4Z4 Homologs

Zeng, Weihua, Chen, Yen-Yun, Newkirk, Daniel A., Wu, Beibei, Balog, Judit, Kong, Xiangduo, Ball, Alexander R., Zanotti, Simona, Tawil, Rabi, Hashimoto, Naohiro, Mortazavi, Ali, van der Maarel, Silvère

Journal:

Year:

2014

Language:

english

File:

PDF, 1.55 MB

english, 2014

34

Validity of the Six Minute Walk Test in Facioscapulohumeral Muscular Dystrophy

Eichinger, Katy, Heatwole, Chad, Heininger, Susanne, Stinson, Nikia, Matichak Stock, Carly, Grosmann, Carla, Wagner, Kathryn R., Tawil, Rabi, Statland, Jeffrey M.

Journal:

Year:

2016

Language:

english

File:

PDF, 785 KB

english, 2016

35

S-6-4 Myotonia and periodic paralysis: implications of molecular defects for treatment

Robert Griggs, Rabi Tawil, Robert Brown, Marinos Dalakas, Angelika Hahn, Philip McManis, Jerry Mendell, Louis Ptáček, Barbara E. Shapiro, Sidney Spector, Michael McDermott

Journal:

Electroencephalography and Clinical Neurophysiology/Electromyography and Motor Control

Year:

1995

Language:

english

File:

PDF, 126 KB

english, 1995

36

Randomized trials of dichlorphenamide in the periodic paralyses

Rabi Tawil, Michael P. McDermott, Robert Brown Jr, Barbara C. Shapiro, Louis J. Ptacek, Philip G. McManis, Marinos C. Dalakas, Sidney A. Spector, Jerry R. Mendell, Angelika F. Hahn, Robert C. Griggs

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 163 KB

english, 2000

37

Reply

Rabi Tawil, Louis J Ptacek, Steven G. Pavlakis, Darryl C. DeVivo, Audrey S. Penn, Coskun Öuzdemir, Robert C. Griggs

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 129 KB

english, 1994

38

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

Linda N. Geng, Zizhen Yao, Lauren Snider, Abraham P. Fong, Jennifer N. Cech, Janet M. Young, Silvere M. van der Maarel, Walter L. Ruzzo, Robert C. Gentleman, Rabi Tawil, Stephen J. Tapscott

Journal:

Developmental Cell

Year:

2012

Language:

english

File:

PDF, 1.51 MB

english, 2012

39

Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy

Tim, Richard W., Gilbert, John R., Stajich, Jeffrey M., Rampersaud, Evadnie, Viles, Kristi D., Tawil, Rabi, Padberg, George W., Frants, Rune, van der Maarel, Silv??re, Bossen, Edward H., Friedman, All

Journal:

Journal of Clinical Neuromuscular Disease

Year:

2001

Language:

english

File:

PDF, 2.10 MB

english, 2001

40

Facioscapulohumeral muscular dystrophy

van der Maarel, Silvère M., Miller, Daniel G., Tawil, Rabi, Filippova, Galina N., Tapscott, Stephen J.

Journal:

Current Opinion in Neurology

Year:

2012

Language:

english

File:

PDF, 350 KB

english, 2012

41

Hereditary Ferritinopathy: A Novel Mutation, Its Cellular Pathology, and Pathogenetic Insights

Mancuso, Michelangelo, Davidzon, Guido, Kurlan, Roger M., Tawil, Rabi, Bonilla, Eduardo, Di Mauro, Salvatore, Powers, James M.

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2005

Language:

english

File:

PDF, 1.46 MB

english, 2005

42

Small noncoding RNAs in FSHD2 muscle cells reveal both DUX4- and SMCHD1-specific signatures

Lim, Jong-Won, Wong, Chao-Jen, Yao, Zizhen, Tawil, Rabi, van der Maarel, Silvère M, Miller, Daniel G, Tapscott, Stephen J, Filippova, Galina N

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.18 MB

english, 2018

43

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

Feng, Qing, Snider, Lauren, Jagannathan, Sujatha, Tawil, Rabi, van der Maarel, Silvère M, Tapscott, Stephen J, Bradley, Robert K

Journal:

Year:

2015

Language:

english

File:

PDF, 3.03 MB

english, 2015

44

Neuromuscular Disorders (Tawil/Neuromuscular Disorders) || Acute Inflammatory Demyelinating Neuropathies and Variants

Tawil, Rabi N., Venance, Shannon

Year:

2011

Language:

english

File:

PDF, 498 KB

english, 2011

45

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

Louis J. Ptáček, Alfred L. George Jr., Robert C. Griggs, Rabi Tawil, Roland G. Kallen, Robert L. Barchi, Margaret Robertson, Mark F. Leppert

Journal:

Year:

1991

Language:

english

File:

PDF, 2.09 MB

english, 1991

46

Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia, 21 September 2015

Tawil, Rabi, Mah, Jean K., Baker, Scott, Wagner, Kathryn R., Ryan, Monique M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 397 KB

english, 2016

47

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model

de Greef, Jessica C, Krom, Yvonne D, den Hamer, Bianca, Snider, Lauren, Hiramuki, Yosuke, van den Akker, Rob F P, Breslin, Kelsey, Pakusch, Miha, Salvatori, Daniela C F, Slütter, Bram, Tawil, Rabi, Bl

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.57 MB

english, 2017

48

The Long Exercise Test in Periodic Paralysis: A Bayesian Analysis

Simmons, Daniel B., Lanning, Julie, Cleland, James C., Puwanant, Araya, Twydell, Paul T., Griggs, Robert C., Tawil, Rabi, Logigian, Eric L.

Journal:

Year:

2018

Language:

english

File:

PDF, 921 KB

english, 2018

49

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei

Jiang, Shan, Williams, Katherine, Kong, Xiangduo, Zeng, Weihua, Nguyen, Nam Viet, Ma, Xinyi, Tawil, Rabi, Yokomori, Kyoko, Mortazavi, Ali, Scialdone, Antonio

Journal:

Year:

2020

File:

PDF, 6.11 MB

2020

50

Interferon-α/β–mediated innate immune mechanisms in dermatomyositis

Steven A. Greenberg, Jack L. Pinkus, Geraldine S. Pinkus, Travis Burleson, Despina Sanoudou, Rabi Tawil, Richard J. Barohn, David S. Saperstein, Hannah R. Briemberg, Maria Ericsson, Peter Park, Anthon

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 934 KB

english, 2005

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