Tesi Rocha, C.: search on Z-Library

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1

Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1

Bodle, Ethan E., Zhu, Wenmiao, Velez-Bartolomei, Frances, Tesi-Rocha, Ana, Liu, Pengfei, Bernstein, Jonathan A.

Journal:

Pediatric Neurology

Year:

2021

File:

PDF, 247 KB

2021

2

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance

Punetha, Jaya, Monges, Soledad, Franchi, Maria Emilia, Hoffman, Eric P., Cirak, Sebahattin, Tesi-Rocha, Carolina

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 952 KB

english, 2015

3

Liquid formulation of pentoxifylline is a poorly tolerated treatment for duchenne dystrophy

Angela Zimmerman, Paula R. Clemens, Carolina Tesi-Rocha, Anne Connolly, Susan T. Iannaccone, Nancy Kuntz, Adrienne Arrieta, Lauren Hache, Erik Henricson, Fengming Hu, Jill Mayhew, Diana M. Escolar

Journal:

Year:

2011

Language:

english

File:

PDF, 166 KB

english, 2011

4

CINRG pilot trial of coenzyme Q10 in steroid-treated duchenne muscular dystrophy

Christopher F. Spurney, Carolina Tesi Rocha, Erik Henricson, Julaine Florence, Jill Mayhew, Ksenija Gorni, Livia Pasquali, Alan Pestronk, Gerard R. Martin, Fengming Hu, Lei Nie, Anne M. Connolly, Dian

Journal:

Year:

2011

Language:

english

File:

PDF, 167 KB

english, 2011

5

P.10.21 Next-generation sequencing meets genetic diagnostics: Development of a comprehensive workflow for neuromuscular disorders

Kesari, A., Punetha, J., Uapinyoying, P., Clarke, N., Waddell, L., North, K., Plotz, P., Tesi-Rocha, C., Bonnemann, C., Grosmann, C., Bertorini, T., Hoffman, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 45 KB

english, 2013

6

‘Double trouble’: Diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia

Donkervoort, Sandra, Schindler, Alice, Tesi-Rocha, Carolina, Schreiber, Allison, Leach, Meganne E., Dastgir, Jahannaz, Hu, Ying, Mankodi, Ami, Wagner, Kathryn R., Friedman, Neil R., Bönnemann, Carsten

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 1.57 MB

english, 2013

7

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Calligaris, S., Guzmán, A., Savransky, A., Buompadre, C., Lubieniecki, F., Tesi Rocha, C., Tiziano, D., Fano, V., Tizzano, E., Gravina, P., Monges, S.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

8

50 Years Ago in The Journal of Pediatrics

Rocha, Carolina Tesi

Journal:

The Journal of Pediatrics

Year:

2016

Language:

english

File:

PDF, 45 KB

english, 2016

9

50 Years Ago in

Klotz, Jenna, Tesi Rocha, Carolina

Journal:

The Journal of Pediatrics

Year:

2019

Language:

english

File:

PDF, 47 KB

english, 2019

10

G.P.56 Novel homozygous stop mutation in alphaB crystallin: Expanding the phenotype

Tesi Rocha, C., Taylor, M., Chang, T., Reyes, C., Winder, T., Moore, S., Bonnemann, C., Nelson, K.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 46 KB

english, 2012

11

G.P.82 ‘Double Trouble’: Diagnostic challenges in DMD in patients with an additional hereditary skeletal dysplasia

Donkervoort, S., Tesi-Rocha, C., Schreiber, A., Schindler, A., Leach, M.E., Zurcher, V., Hu, Y., Mankodi, A., Friedman, N.R., Bonnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 62 KB

english, 2012

12

[Supplements to Clinical Neurophysiology] Advances in Clinical Neurophysiology, Proceedings of the 27th International Congress of Clinical Neurophysiology, AAEM 50th Anniversary and 57th Annual Meeting of the ACNS Joint Meeting Volume 57 || Chapter 26 Update on diagnosis and treatment of hereditary and acquired polyneuropathies in childhood

Rocha, Carolina Tesi

Year:

2004

Language:

english

File:

PDF, 1.86 MB

english, 2004

13

G.P.152

Leach, M.E., Donkervoort, S., Simpson, K., Tesi-Rocha, A.C., Avery, R., Dastgir, J., Reyes, C., Hu, Y., Winder, T.L., Bönnemann, C.G.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

14

PPARα L162V underlies variation in serum triglycerides and subcutaneous fat volume in young males

Julieta Uthurralt, Heather Gordish-Dressman, Meg Bradbury, Carolina Tesi-Rocha, Joseph Devaney, Brennan Harmon, Erica K Reeves, Cinzia Brandoli, Barbara C Hansen, Richard L Seip, Paul D Thompson, Thom

Journal:

BMC Medical Genetics

Year:

2007

Language:

english

File:

PDF, 1.25 MB

english, 2007

15

D.P.1 Next-generation sequencing approach for muscular dystrophy diagnosis: Advantages and pitfalls of new diagnostic technology

Tesi Rocha, C., Kesari, A., Punetha, J., Bonnemann, C., Hoffman, E.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

16

157. A novel mutation in LPIN1 gene causing recurrent rhabdomyolysis in childhood: An under-diagnosed condition?

J. Nance, C. Tesi-Rocha, B. Kirmse, K. Raymond

Journal:

Clinical Neurophysiology

Year:

2012

Language:

english

File:

PDF, 39 KB

english, 2012

17

G.P.9.09 Immediate release oral pentoxifylline is poorly tolerated in Duchenne muscular dystrophy boys

D. Escolar, C. Tesi-Rocha, P. Clemens, S. Iannaccone, A. Pestronk, N. Kuntz, A. Zimmerman, E. Henricson, A. Arrieta, L. Nei, B. Markle, A. Connolly

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 48 KB

english, 2007

18

CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy

Diana M. Escolar, Gunnar Buyse, Erik Henricson, Robert Leshner, Julaine Florence, Jill Mayhew, Carolina Tesi-Rocha, Ksenija Gorni, Livia Pasquali, Kantilal M. Patel, Robert McCarter, Jennifer Huang, T

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 91 KB

english, 2005

19

Limb–Girdle and Congenital Muscular Dystrophies: Current Diagnostics, Management, and Emerging Technologies

Carolina Tesi Rocha, Eric P. Hoffman

Journal:

Current Neurology and Neuroscience Reports

Year:

2010

Language:

english

File:

PDF, 224 KB

english, 2010

20

T.P.5.02 Pentoxifylline treatment fails to rescue muscle strength and function deterioration in prednisone-treated Duchenne muscular dystrophy (DMD)

D.M. Escolar, K. Gorni, A.C. Tesi-Rocha, J. Mah, Y. Nevo, A. Korengberg, H. Kolski, T. Bertorini, A. Connolly, N. Kuntz, A. Zimmerman, L. Morgenroth, A. Arrieta, J. Mayhew, J. Florence, L. Nei, F. Hu,

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 50 KB

english, 2008

21

Pentoxifylline as a rescue treatment for DMD: A randomized double-blind clinical trial

Escolar, D. M., Zimmerman, A., Bertorini, T., Clemens, P. R., Connolly, A. M., Mesa, L., Gorni, K., Kornberg, A., Kolski, H., Kuntz, N., Nevo, Y., Tesi-Rocha, C., Nagaraju, K., Rayavarapu, S., Hache,

Journal:

Year:

2012

Language:

english

File:

PDF, 544 KB

english, 2012

22

Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy

Friedman, Bethany, Simpson, Kara, Tesi-Rocha, Carolina, Zhou, Delu, Palmer, Cheryl A., Suchy, Sharon F.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 743 KB

english, 2014

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