Yum, Sabrina W : rechercher sur Z-Library

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1

Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30

Sabrina W. Yum, Junxian Zhang, Steven S. Scherer

Journal:

Neurobiology of Disease

Année:

2010

Langue:

english

Fichier:

PDF, 2.21 MB

english, 2010

2

Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26

Junxian Zhang, Steven S. Scherer, Sabrina W. Yum

Journal:

Molecular and Cellular Neuroscience

Année:

2011

Langue:

english

Fichier:

PDF, 1.59 MB

english, 2011

3

Spinal Muscular Atrophy: Entering the Treatment Age

Kichula, Elizabeth A., Yum, Sabrina W., Brandsema, John

Journal:

Current Pediatrics Reports

Année:

2018

Langue:

english

Fichier:

PDF, 390 KB

english, 2018

4

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy

Sabrina W. Yum, Junxian Zhang, Katie Mo, Jian Li, Steven S. Scherer

Journal:

Annals of Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2009

5

Alteration in extracellular amino acids after traumatic spinal cord injury

S. Scott Panter, MD Sabrina W. Yum, Dr, MD Alan I. Faden

Journal:

Annals of Neurology

Année:

1990

Langue:

english

Fichier:

PDF, 420 KB

english, 1990

6

Central nervous system dysfunction in a mouse model of Fa2h deficiency

Kathleen A. Potter, Michael J. Kern, George Fullbright, Jacek Bielawski, Steven S. Scherer, Sabrina W. Yum, Jian J. Li, Hua Cheng, Xianlin Han, Jagadish Kummetha Venkata, P. Akbar Ali Khan, Bärbel Roh

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2011

7

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

Kleopas A. Kleopa, Sabrina W. Yum, Steven S. Scherer

Journal:

Journal of Neuroscience Research

Année:

2002

Langue:

english

Fichier:

PDF, 4.11 MB

english, 2002

8

Lipid alterations correlate with tissue magnesium decrease following impact trauma in rabbit spinal cord

Matthias Lemke, Sabrina W. Yum, Alan I. Faden

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Année:

1990

Langue:

english

Fichier:

PDF, 1.12 MB

english, 1990

9

Diverse Trafficking Abnormalities of Connexin32 Mutants Causing CMTX

Sabrina W. Yum, Kleopas A. Kleopa, Susan Shumas, Steven S. Scherer

Journal:

Neurobiology of Disease

Année:

2002

Langue:

english

Fichier:

PDF, 552 KB

english, 2002

10

Traumatic spinal cord injury in rabbits decreases intracellular free magnesium concentration as measured by 31P MRS

Robert Vink, Sabrina W. Yum, Matthias Lemke, Paul Demediuk, Alan I. Faden

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 322 KB

english, 1989

11

Efficacy and Tolerability of Topiramate in Pediatric Migraine

Marcos J. Cruz, Ignacio Valencia, Agustín Legido, Sanjeev V. Kothare, Divya S. Khurana, Sabrina Yum, Huntley H. Hardison, Joseph J. Melvin, Harold G. Marks

Journal:

Pediatric Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 113 KB

english, 2009

12

Melanocytic Tumors Express Connexin 43 but not 26

Sargen, Michael R., Gormley, Rachel H., Pasha, Terri L., Yum, Sabrina, Acs, Geza, Xu, Xiaowei, Zhang, Paul J.

Journal:

American Journal of Dermatopathology

Année:

2013

Langue:

english

Fichier:

PDF, 445 KB

english, 2013

13

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

Harding, Brian N., Kariya, Shingo, Monani, Umrao R., Chung, Wendy K., Benton, Maryjane, Yum, Sabrina W., Tennekoon, Gihan, Finkel, Richard S.

Journal:

Journal of Neuropathology and Experimental Neurology

Année:

2015

Langue:

english

Fichier:

PDF, 5.77 MB

english, 2015

14

Connexin43 Expression Increases in the Epithelium and Stroma along the Colonic Neoplastic Progression Pathway: Implications for Its Oncogenic Role

Han, Yusheng, Zhang, Paul J., Chen, Terina, Yum, Sabrina W., Pasha, Teresa, Furth, Emma E.

Journal:

Gastroenterology Research and Practice

Année:

2011

Langue:

english

Fichier:

PDF, 475 KB

english, 2011

15

De novo PMP2 mutations in families with type 1 Charcot–Marie–Tooth disease

Motley, William W., Palaima, Paulius, Yum, Sabrina W., Gonzalez, Michael A., Tao, Feifei, Wanschitz, Julia V., Strickland, Alleene V., Löscher, Wolfgang N., De Vriendt, Els, Koppi, Stefan, Medne, Livi

Journal:

Année:

2016

Fichier:

PDF, 733 KB

2016

16

De novo PMP2 mutations in families with type 1 Charcot–Marie–Tooth disease

Motley, William W., Palaima, Paulius, Yum, Sabrina W., Gonzalez, Michael A., Tao, Feifei, Wanschitz, Julia V., Strickland, Alleene V., Löscher, Wolfgang N., De Vriendt, Els, Koppi, Stefan, Medne, Livi

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 733 KB

english, 2016

17

Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease

Cornett, Kayla MD, Menezes, Manoj P, Bray, Paula, Halaki, Mark, Shy, Rosemary R., Yum, Sabrina W., Estilow, Timothy, Moroni, Isabella, Foscan, Maria, Pagliano, Emanuela, Pareyson, Davide, Laurá, Matil

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 382 KB

english, 2016

18

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

Panosyan, Francis B., Laura, Matilde, Rossor, Alexander M., Pisciotta, Chiara, Piscosquito, Giuseppe, Burns, Joshua, Li, Jun, Yum, Sabrina W., Lewis, Richard A., Day, John, Horvath, Rita, Herrmann, Da

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 937 KB

english, 2017

19

Natural history of Charcot-Marie-Tooth disease during childhood

Cornett, Kayla MD, Menezes, Manoj P, Shy, Rosemary R, Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Timothy, Yum, Sabrina W, Bhandari, Trupti, Muntoni, Francesco, Laura, Matilde, Re

Journal:

Annals of Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 863 KB

english, 2017

20

Homozygous Boricua TBCK Mutation Causes Neurodegeneration and Aberrant Autophagy

Ortiz-González, Xilma R, Tintos-Hernández, Jesus A, Keller, Kierstin, Li, Xueli, Foley, A. Reghan, Bharucha-Goebel, Diana X, Kessler, Sudha K, Yum, Sabrina W., Crino, Peter B., He, Miao, Wallace, Doug

Journal:

Annals of Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 2.36 MB

english, 2017

21

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy

Wang, Chih-Chuan, Ortiz-González, Xilma R., Yum, Sabrina W., Gill, Sara M., White, Amy, Kelter, Erin, Seaver, Laurie H., Lee, Sansan, Wiley, Graham, Gaffney, Patrick M., Wierenga, Klaas J., Rasband, M

Journal:

The American Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.93 MB

english, 2018

22

Phase 1 Study of Edasalonexent (CAT-1004), an Oral NF-κB Inhibitor, in Pediatric Patients with Duchenne Muscular Dystrophy

Finanger, Erika, Vandenborne, Krista, Finkel, Richard S., Lee Sweeney, H., Tennekoon, Gihan, Yum, Sabrina, Mancini, Maria, Bista, Pradeep, Nichols, Andrew, Liu, Hanlan, Fretzen, Angelika, Donovan, Joa

Journal:

Journal of Neuromuscular Diseases

Année:

2018

Langue:

english

Fichier:

PDF, 345 KB

english, 2018

23

The diagnosis and natural history of mucopolysaccharidosis type IVA in one family

Matalon, Dena, Dougherty, Patricia, Lulis, Lauren, Medne, Livija, Krantz, Ian, Yum, Sabrina, Ficicioglu, Can

Journal:

Molecular Genetics and Metabolism

Année:

2018

Langue:

english

Fichier:

PDF, 55 KB

english, 2018

24

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

Graham, Robert J, Muntoni, Francesco, Hughes, Imelda, Yum, Sabrina W, Kuntz, Nancy L, Yang, Michele L, Byrne, Barry J, Prasad, Suyash, Alvarez, Rachel, Genetti, Casie A, Haselkorn, Tmirah, James, Emma

Journal:

Archives of Disease in Childhood

Année:

2019

Langue:

english

Fichier:

PDF, 760 KB

english, 2019

25

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

Graham, Robert J, Muntoni, Francesco, Hughes, Imelda, Yum, Sabrina W, Kuntz, Nancy L, Yang, Michele L, Byrne, Barry J, Prasad, Suyash, Alvarez, Rachel, Genetti, Casie A, Haselkorn, Tmirah, James, Emma

Journal:

Archives of Disease in Childhood

Année:

2019

Fichier:

PDF, 760 KB

2019

26

A multidisciplinary approach to dosing nusinersen for spinal muscular atrophy

Zingariello, Carla D., Brandsema, John, Drum, Elizabeth, Henderson, Alicia A., Dubow, Scott, Glanzman, Allan M., Mayer, Oscar, Yum, Sabrina W., Kichula, Elizabeth A.

Journal:

Neurology Clinical Practice

Année:

2019

Langue:

english

Fichier:

PDF, 2.00 MB

english, 2019

27

Clinical Course in a Patient With Spinal Muscular Atrophy Type 0 Treated With Nusinersen and Onasemnogene Abeparvovec

Matesanz, Susan E., Curry, Candace, Gross, Brianna, Rubin, Adam I., Linn, Rebecca, Yum, Sabrina W., Kichula, Elizabeth A.

Journal:

Journal of Child Neurology

Année:

2020

Fichier:

PDF, 594 KB

2020

28

Team Approach: Management of Brachial Plexus Birth Injury

Schmieg, Sandra, Nguyen, Jie C., Pehnke, Meagan, Yum, Sabrina W., Shah, Apurva S.

Journal:

Année:

2020

Fichier:

PDF, 1.08 MB

2020

29

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS

Cornett, Kayla M. D., Menezes, Manoj P., Bray, Paula, Shy, Rosemary R., Moroni, Isabella, Pagliano, Emanuela, Pareyson, Davide, Estilow, Tim, Yum, Sabrina W., Bhandari, Trupti, Muntoni, Francesco, Lau

Journal:

Annals of Clinical and Translational Neurology

Année:

2020

Fichier:

PDF, 79 KB

2020

30

Janus Kinase Inhibition in the AicardiâGoutiÃ¨res Syndrome

Vanderver, Adeline, Adang, Laura, Gavazzi, Francesco, McDonald, Katherine, Helman, Guy, Frank, David B., Jaffe, Nicole, Yum, Sabrina W., Collins, Abigail, Keller, Stephanie R., Lebon, Pierre, Meritet,

Journal:

New England Journal of Medicine

Année:

2020

Fichier:

PDF, 490 KB

2020

31

Retrospective Analysis of Fractures and Factors Causing Ambulation Loss After Lower Limb Fractures in Duchenne Muscular Dystrophy

Yildiz, Sulenur, Glanzman, Allan M., Estilow, Tim, Flickinger, Jean, Brandsema, John F., Tennekoon, Gihan, Banwell, Brenda L., Yum, Sabrina

Journal:

American Journal of Physical Medicine & Rehabilitation

Année:

2020

Fichier:

PDF, 228 KB

2020