Mena T. Scavina : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (18)
Les plus populaires
Liste
- Liste
- Tableau

1

Krabbe's disease presenting as a peripheral neuropathy

Harold G. Marks, Mena T. Scavina, Edwin H. Kolodny, Michael Palmieri, Judith Childs

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 88 KB

english, 1997

2

GMPPB -Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

Jensen, Braden S., Willer, Tobias, Saade, Dimah N., Cox, Mary O., Mozaffar, Tahseen, Scavina, Mena, Stefans, Vikki A., Winder, Thomas L., Campbell, Kevin P., Moore, Steven A., Mathews, Katherine D.

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 547 KB

english, 2015

3

Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation

Cornelius F. Boerkoel, Hiroshi Takashima, Carlos A. Garcia, Richard K. Olney, John Johnson, Katherine Berry, Paul Russo, Shelley Kennedy, Ahmad S. Teebi, Mena Scavina, Lowell L. Williams, Pedro Mancia

Journal:

Annals of Neurology

Année:

2002

Langue:

english

Fichier:

PDF, 149 KB

english, 2002

4

T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy

Michael E. Shy, Mena T. Scavina, Alisa Clark, Karen M. Krajewski, Jun Li, John Kamholz, Edwin Kolodny, Kinga Szigeti, Richard A. Fischer, Gulam Mustafa Saifi, Steven S. Scherer, James R. Lupski

Journal:

Annals of Neurology

Année:

2006

Langue:

english

Fichier:

PDF, 191 KB

english, 2006

5

Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin is p53-independent

Chia-Yen Wu, Ilsa Gómez-Curet, Vicky L Funanage, Mena Scavina, Wenlan Wang

Journal:

BMC Cell Biology

Année:

2009

Langue:

english

Fichier:

PDF, 2.29 MB

english, 2009

6

Robust quantification ofthe SMNgene copy number by real-time TaqMan PCR

Ilsa Gómez-Curet, Karyn G. Robinson, Vicky L. Funanage, Thomas O. Crawford, Mena Scavina, Wenlan Wang

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 186 KB

english, 2007

7

Robust quantification ofthe SMNgene copy number by real-time TaqMan PCR

Ilsa Gómez-Curet, Karyn G. Robinson, Vicky L. Funanage, Thomas O. Crawford, Mena Scavina, Wenlan Wang

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 53 KB

english, 2009

8

Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1

Daniel A. Doyle, Iris Gonzalez, Becky Thomas, Mena Scavina

Journal:

The Journal of Pediatrics

Année:

2004

Langue:

english

Fichier:

PDF, 115 KB

english, 2004

9

Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death

Wenlan Wang, Darlise DiMatteo, Vicky L. Funanage, Mena Scavina

Journal:

Molecular Genetics and Metabolism

Année:

2005

Langue:

english

Fichier:

PDF, 558 KB

english, 2005

10

Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34

Phillip F. Chance, Bruce A. Rabin, Stephen G. Ryan, Yuan Ding, Mena Scavina, Barbara Crain, John W. Griffin, David R. Cornblath

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 1.07 MB

english, 1998

11

Prevalence of Charcot-Marie-Tooth Disease in Patients Who Have Bilateral Cavovarus Feet

Nagai, Mary K., Chan, Gilbert, Guille, James T., Kumar, S. Jay, Scavina, Mena, Mackenzie, William G.

Journal:

Journal of Pediatric Orthopaedics

Année:

2006

Langue:

english

Fichier:

PDF, 504 KB

english, 2006

12

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation

Gripp, Karen W., Baker, Laura, Kandula, Vinay, Conard, Katrina, Scavina, Mena, Napoli, Joseph A., Griffin, Gregory C., Thacker, Mihir, Knox, Rachel G., Clark, Graeme R., Parker, Victoria E. R., Semple

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 2.34 MB

english, 2016

13

Correction of Cavovarus Foot Deformity in Charcot-Marie-Tooth Disease

Azmaipairashvili, Zaza, Riddle, Eric C, Scavina, Mena, Kumar, S Jay

Journal:

Journal of Pediatric Orthopaedics

Année:

2005

Langue:

english

Fichier:

PDF, 310 KB

english, 2005

14

Assessment of Bone Mineral Density in Duchenne Muscular Dystrophy Using the Lateral Distal Femur

Harcke, H Theodore, Kecskemethy, Heidi H, Conklin, Dolores, Scavina, Mena, Mackenzie, William G, McKay, Charles P

Journal:

Journal of Clinical Neuromuscular Disease

Année:

2006

Langue:

english

Fichier:

PDF, 184 KB

english, 2006

15

[ASME ASME 2003 International Mechanical Engineering Congress and Exposition - Washington, DC, USA (November 15–21, 2003)] Advances in Bioengineering - Adaptations for Controlled Hand Movements in Duchenne’s Muscular Dystrophy

Bowen, Roscoe C., Seliktar, Rami, Rahman, Tariq, Alexander, Michael, Scavina, Mena

Année:

2003

Langue:

english

Fichier:

PDF, 728 KB

english, 2003

16

Critical Airway Stenosis in an Adolescent Male With Pompe Disease and Thoracic Lordosis

Brenn, B. Randall, Theroux, Mary T., Shah, Suken A., Mackenzie, William G., Heinle, Robert, Scavina, Mena T.

Journal:

A & A Case Reports

Année:

2017

Langue:

english

Fichier:

PDF, 309 KB

english, 2017

17

An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3′ untranslated region mutation in GJB1 and its clinical features

Chen, Dong-Hui, Ma, Maxwell, Scavina, Mena, Blue, Elizabeth, Wolff, John, Karna, Prasanthi, Dorschner, Michael O., Raskind, Wendy H., Bird, Thomas D.

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 157 KB

english, 2017

18

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

Dankwa, Lois, Richardson, Jessica, Motley, William W., Scavina, Mena, Courel, Steve, Bardakjian, Tanya, Züchner, Stephan, Scherer, Steven S.

Journal:

Neuromuscular Disorders

Année:

2018

Langue:

english

Fichier:

PDF, 815 KB

english, 2018