Shieh, Perry B: search on Z-Library

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1

Congenital Myasthenic Syndromes

Shieh, Perry B., Oh, Shin J.

Journal:

Neurologic Clinics

Year:

2018

Language:

english

File:

PDF, 770 KB

english, 2018

2

Muscular Dystrophies and Other Genetic Myopathies

Shieh, Perry B.

Journal:

Neurologic Clinics

Year:

2013

Language:

english

File:

PDF, 1.01 MB

english, 2013

3

Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders

Tan, Christopher A., Westbrook, Majorie Jody, Truty, Rebecca, Kvitek, Daniel J., Kennemer, Michael, Winder, Thomas L., Shieh, Perry B.

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2020

File:

PDF, 273 KB

2020

4

Exercise responses in patients with chronically high creatine kinase levels

Cooper, Christopher B., Dolezal, Brett A., Neufeld, Eric V., Shieh, Perry, Jenner, John R., Riley, Marshall

Journal:

Year:

2017

Language:

english

File:

PDF, 782 KB

english, 2017

5

Reverse fiber type disproportion: A distinct metabolic myopathy

Cooper, Christopher B., Dolezal, Brett A., Riley, Marshall, Verity, M. Anthony, Shieh, Perry B.

Journal:

Year:

2016

Language:

english

File:

PDF, 214 KB

english, 2016

6

Amifampridine phosphate (Firdapse ® ) is effective and safe in a phase 3 clinical trial in LEMS

Oh, Shin J, Shcherbakova, Natalya, Kostera-Pruszczyk, Anna, Alsharabati, Mohammad, Dimachkie, Mazen, Blanco, Jose Munoz, Brannagan, Thomas, Lavrnić, Dragana, Shieh, Perry B, Vial, Christophe, Meisel,

Journal:

Year:

2016

Language:

english

File:

PDF, 977 KB

english, 2016

7

Metabolic Myopathies

Adler, Margaret, Shieh, Perry

Journal:

Seminars in Neurology

Year:

2015

Language:

english

File:

PDF, 404 KB

english, 2015

8

Poster 236: Relationships of Body Mass Index with Impairments, Functional Limitations and Disability

Monique B. Perry, Gloria P. Furst, Naomi Lynn H. Gerber, Ching-yi A. Shieh, Monica C. Skarulis

Journal:

Year:

2009

Language:

english

File:

PDF, 50 KB

english, 2009

9

Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study

Argov, Zohar, Caraco, Yoseph, Lau, Heather, Pestronk, Alan, Shieh, Perry B., Skrinar, Alison, Koutsoukos, Tony, Ahmed, Ruhi, Martinisi, Julia, Kakkis, Emil

Journal:

Journal of Neuromuscular Diseases

Year:

2016

Language:

english

File:

PDF, 680 KB

english, 2016

10

Duchenne muscular dystrophy

Shieh, Perry B.

Journal:

Current Opinion in Neurology

Year:

2015

Language:

english

File:

PDF, 78 KB

english, 2015

11

NaV1.4 Loss of Function Changes for Recessively Inherited Myopathy with Fluctuating Weakness

Elia, Nathaniel, Shieh, Perry, Quinonez, Marbella, Cannon, Stephen

Journal:

Biophysical Journal

Year:

2018

File:

PDF, 47 KB

2018

12

[Handbook of Clinical Neurology] Muscular Dystrophies Volume 101 || Limb-girdle muscular dystrophy 2H and the role of TRIM32

Shieh, Perry B.

Year:

2011

Language:

english

File:

PDF, 163 KB

english, 2011

13

Large in-frame 5′ deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature

Gibbs, Elizabeth M., Barthélémy, Florian, Douine, Emilie D., Hardiman, Natalie C., Shieh, Perry B., Khanlou, Negar, Crosbie, Rachelle H., Nelson, Stanley F., Miceli, M. Carrie

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 3.09 MB

2019

14

Myelopathy in a patient with leukodystrophy due to CSF1R mutation

Ho, Victoria M., Hovsepian, Dominic A., Shieh, Perry B.

Journal:

Neurology: Genetics

Year:

2019

File:

PDF, 291 KB

2019

15

Poster 12 Functional Limitations and Disabilities in Alkaptonuria in a 3-Year Treatment Trial With Nitisinone

Perry, Monique B., Gahl, William, Gerber, Naomi Lynn H., Introne, Wendy J., Shieh, Ching-yi A.

Journal:

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

16

Letter to the Editor

Shieh, Perry B., BÃ¶nnemann, Carsten G., MÃ¼ller-Felber, Wolfgang, Blaschek, Astrid, Dowling, James, Kuntz, Nancy L., Seferian, Andreea M.

Journal:

Human Gene Therapy

Year:

2020

File:

PDF, 553 KB

2020

17

Myasthenic congenital myopathy from recessive mutations at a single residue in Na V 1.4

Elia, Nathaniel, Palmio, Johanna, Castañeda, Marisol Sampedro, Shieh, Perry B., Quinonez, Marbella, Suominen, Tiina, Hanna, Michael G., Männikkö, Roope, Udd, Bjarne, Cannon, Stephen C.

Journal:

Year:

2019

Language:

english

File:

PDF, 864 KB

english, 2019

18

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Gang, Qiang, Bettencourt, Conceição, Machado, Pedro M., Brady, Stefen, Holton, Janice L., Pittman, Alan M., Hughes, Deborah, Healy, Estelle, Parton, Matthew, Hilton-Jones, David, Shieh, Perry B., Need

Journal:

Neurobiology of Aging

Year:

2016

Language:

english

File:

PDF, 2.09 MB

english, 2016

19

Amifampridine Phosphate (Firdapse) Is Effective in a Confirmatory Phase 3 Clinical Trial in LEMS

Shieh, Perry, Sharma, Khema, Kohrman, Bruce, Oh, Shin J.

Journal:

Journal of Clinical Neuromuscular Disease

Year:

2019

File:

PDF, 241 KB

2019

20

Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy

Minqi Hao, Kevan Akrami, Ke Wei, Carlos De Diego, Nam Che, Jeong-Hee Ku, James Tidball, Michael C. Graves, Perry B. Shieh, Fabian Chen

Journal:

Developmental Dynamics

Year:

2008

Language:

english

File:

PDF, 539 KB

english, 2008

21

Long‐Term Disease Surveillance in Bandundu Region, Democratic Republic of the Congo: A Model for Early Detection and Prevention of Ebola Hemorrhagic Fever

Lloyd, Ethleen S., Zaki, Sherif R., Rollin, Pierre E., Tshioko, Kweteminga, Bwaka, Mpia A., Ksiazek, Thomas G., Calain, Philippe, Shieh, Wun‐Ju, Kondé, M. Kader, Verchueren, Eric, Perry, Helen N., Man

Journal:

The Journal of Infectious Diseases

Year:

1999

Language:

english

File:

PDF, 264 KB

english, 1999

22

Age-related Changes in Globe Position

Shieh, Alice C., Blandford, Alexander D., Hwang, Catherine J., Perry, Julian D.

Journal:

Ophthalmic Plastic & Reconstructive Surgery

Year:

2019

File:

PDF, 699 KB

2019

23

Chiral pyridinyloxazolidine ligands and copper chloride complexes

Wiskur, Sheryl L., Maynor, Marc S., Smith, Mark D., Sheppard, Cody I., Akhani, Ravish K., Pellechia, Perry J., Vaughn, Shae A., Shieh, Chengnien

Journal:

Journal of Coordination Chemistry

Year:

2013

Language:

english

File:

PDF, 290 KB

english, 2013

24

Deflazacort vs prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post hoc analysis from the ACT DMD trial

Shieh, Perry B, McIntosh, Joseph, Jin, Fengbin, Souza, Marcio, Elfring, Gary, Narayanan, Siva, Trifillis, Panayiota, Peltz, Stuart W, McDonald, Craig M, Darras, Basil T

Journal:

Year:

2018

Language:

english

File:

PDF, 1.42 MB

english, 2018

25

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

Szelinger, Szabolcs, Krate, Jonida, Ramsey, Keri, Strom, Samuel P., Shieh, Perry B., Lee, Hane, Belnap, Newell, Balak, Chris, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, Both, Matt De, Claasen

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 854 KB

2020

26

Molecular mechanisms underlying activity-dependent regulation of BDNF expression

Perry B. Shieh, Anirvan Ghosh

Journal:

Developmental Neurobiology

Year:

1999

Language:

english

File:

PDF, 137 KB

english, 1999

27

RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design

Finkel, Richard S., Day, John W., De Vivo, Darryl C., Kirschner, Janbernd, Mercuri, Eugenio, Muntoni, Francesco, Shieh, Perry B., Tizzano, Eduardo, Desguerre, Isabelle, Quijano-Roy, Susana, Saito, Kay

Journal:

Journal of Neuromuscular Diseases

Year:

2020

File:

PDF, 88 KB

2020

28

The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID â19 pandemic

Veerapandiyan, Aravindhan, Wagner, Kathryn R., Apkon, Susan, McDonald, Craig M., Mathews, Katherine D., Parsons, Julie A., Wong, Brenda L., Eichinger, Katy, Shieh, Perry B., Butterfield, Russell J., R

Journal:

Year:

2020

File:

PDF, 233 KB

2020

29

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Woods, Jeremy D., Khanlou, Negar, Lee, Hane, Signer, Rebecca, Shieh, Perry, Chen, Johnathan, Herzog, Matthew, Palmer, Christina, MartinezâAgosto, Julian, Nelson, Stanley F.

Journal:

Year:

2020

File:

PDF, 1012 KB

2020

30

Poster 231: Impairments, Functional Limitations, and Disability in Adults With Sickle Cell Anemia

Monique B. Perry, Naomi Lynn H. Gerber, Ching-yi A. Shieh, Monica C. Skarulis

Journal:

Year:

2010

Language:

english

File:

PDF, 56 KB

english, 2010

31

066âAvxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update

Day, John W, Chiriboga, Claudia A, Crawford, Thomas O, Darras, Basil T, Finkel, Richard S, Connolly, Anne M, Iannaccone, Susan T, Kuntz, Nancy L, Pena, Loren DM, Schultz, Meredith, Shieh, Perry B, Smi

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2019

File:

PDF, 57 KB

2019

32

Valosin-containing protein mutation and Parkinson’s disease

Nora Chan, Cindy Le, Perry Shieh, Tahseen Mozaffar, Manaswitha Khare, Jeff Bronstein, Virginia Kimonis

Journal:

Parkinsonism & Related Disorders

Year:

2012

Language:

english

File:

PDF, 343 KB

english, 2012

33

Poster 279 One Year Follow-up of Relationships of Body Mass Index With Impairments, Functional Limitations, and Disability in Subject Who Were Obese

Monique B. Perry, Naomi Lynn H. Gerber, Ching-yi A. Shieh, Monica C. Skarulis

Journal:

Year:

2011

Language:

english

File:

PDF, 50 KB

english, 2011

34

A Review of the Diagnosis and Treatment of Periodic Paralysis

Statland, Jeffrey M., Fontaine, Bertrand, Hanna, Michael G., Johnson, Nicholas, Kissel, John T., Sansone, Valeria A., Shieh, Perry B., Tawil, Rabi N., Trivedi, Jaya, Cannon, Stephen C., Griggs, Robert

Journal:

Year:

2017

Language:

english

File:

PDF, 676 KB

english, 2017

35

Emerging Strategies in the Treatment of Duchenne Muscular Dystrophy

Shieh, Perry B.

Journal:

Neurotherapeutics

Year:

2018

Language:

english

File:

PDF, 1.02 MB

english, 2018

36

Duchenne muscular dystrophy

Shieh, Perry B.

Journal:

Current Opinion in Neurology

Year:

2015

File:

PDF, 78 KB

2015

37

Supplement 1. Ebola: The Virus and the Disease || Long-Term Disease Surveillance in Bandundu Region, Democratic Republic of the Congo: A Model for Early Detection and Prevention of Ebola Hemorrhagic Fever

Ethleen S. Lloyd, Sherif R. Zaki, Pierre E. Rollin, Kweteminga Tshioko, Mpia A. Bwaka, Thomas G. Ksiazek, Philippe Calain, Wun-Ju Shieh, M. Kader Kondé, Eric Verchueren, Helen N. Perry, Lubaki Manguin

Journal:

The Journal of Infectious Diseases

Year:

1999

Language:

english

File:

PDF, 1.60 MB

english, 1999

38

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

Mercuri, Eugenio, Darras, Basil T., Chiriboga, Claudia A., Day, John W., Campbell, Craig, Connolly, Anne M., Iannaccone, Susan T., Kirschner, Janbernd, Kuntz, Nancy L., Saito, Kayoko, Shieh, Perry B.,

Journal:

New England Journal of Medicine

Year:

2018

Language:

english

File:

PDF, 294 KB

english, 2018

39

Action Potential-Evoked Calcium Release Is Impaired in Single Skeletal Muscle Fibers from Heart Failure Patients

DiFranco, Marino, Quiñonez, Marbella, Shieh, Perry, Fonarow, Gregg C., Cruz, Daniel, Deng, Mario C., Vergara, Julio L., Middlekauff, Holly R., Beard, Nicole

Journal:

Year:

2014

Language:

english

File:

PDF, 1.23 MB

english, 2014

40

Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip

Ko, Jaemin, Pomerantz, Jason H., Perry, Hazel, Shieh, Joseph T., Slavotinek, Anne M., Oberoi, Snehlata, Klein, Ophir D.

Journal:

The Cleft Palate-Craniofacial Journal

Year:

2019

Language:

english

File:

PDF, 316 KB

english, 2019

41

Abnormalities of Calcium Handling Proteins in Skeletal Muscle Mirror Those of the Heart in Humans With Heart Failure: A Shared Mechanism?

Holly R. Middlekauff, Chris Vigna, M. Anthony Verity, Gregg C. Fonarow, Tamara B. Horwich, Michele A. Hamilton, Perry Shieh, A. Russell Tupling

Journal:

Journal of Cardiac Failure

Year:

2012

Language:

english

File:

PDF, 601 KB

english, 2012

42

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

Gang, Qiang, Bettencourt, Conceicao, Machado, Pedro M., Fox, Zoe, Brady, Stefen, Healy, Estelle, Parton, Matt, Holton, Janice L., Hilton-Jones, David, Shieh, Perry B., Zanoteli, Edmar, De Paepe, Boel,

Journal:

Neurobiology of Aging

Year:

2015

Language:

english

File:

PDF, 191 KB

english, 2015

43

Cerebellar transcranial magnetic stimulation impairs verbal working memory

John E. Desmond, S. H. Annabel Chen, Perry B. Shieh

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 296 KB

english, 2005

44

Neurotrophins: New roles for a seasoned cast

Perry B Shieh, Anirvan Ghosh

Journal:

Current Biology

Year:

1997

Language:

english

File:

PDF, 192 KB

english, 1997

45

Identification of a Signaling Pathway Involved in Calcium Regulation of BDNF Expression

Perry B. Shieh, Shu-Ching Hu, Kathryn Bobb, Tonnis Timmusk, Anirvan Ghosh

Journal:

Year:

1998

Language:

english

File:

PDF, 475 KB

english, 1998

46

Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2

Glascock, Jacqueline, Sampson, Jacinda, Connolly, Anne M., Darras, Basil T., Day, John W., Finkel, Richard, Howell, R. Rodney, Klinger, Katherine W., Kuntz, Nancy, Prior, Thomas, Shieh, Perry B., Craw

Journal:

Journal of Neuromuscular Diseases

Year:

2020

File:

PDF, 339 KB

2020

47

Hearing and Vision Loss in an Older Man

Ho, Victoria M., Arac, Ahmet, Shieh, Perry B.

Journal:

Year:

2018

Language:

english

File:

PDF, 220 KB

english, 2018

48

Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history

Chan, Andrew K., Han, Seunggu J., Choy, Winward, Beleford, Daniah, Aghi, Manish K., Berger, Mitchel S., Shieh, Joseph T., Bollen, Andrew W., Perry, Arie, Phillips, Joanna J., Butowski, Nicholas, Solom

Journal:

Clinical Neuropathology

Year:

2017

Language:

english

File:

PDF, 3.11 MB

english, 2017

49

Large in-frame 5′ deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature

Gibbs, Elizabeth M., Barthélémy, Florian, Douine, Emilie D., Hardiman, Natalie C., Shieh, Perry B., Khanlou, Negar, Crosbie, Rachelle H., Nelson, Stanley F., Miceli, M. Carrie

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 3.09 MB

english, 2019

50

Advances in the Genetic Testing of Neuromuscular Diseases

Shieh, Perry B.

Journal:

Neurologic Clinics

Year:

2020

File:

PDF, 1.02 MB

2020

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