MR Imaging Findings in Children with Merosin-Deficient Congenital Muscular Dystrophy

par Caro, Pilar A., Scavina, Mena, Hoffman, Eric, Pegoraro, Elena, Marks, Harold G.
Publié dans AJNR Am J Neuroradiol (1999)

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

par Funanage Vicky L, Gómez-Curet Ilsa, Wu Chia-Yen, Scavina Mena, Wang Wenlan
Publié 2009-05-01

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

par Wu, Chia-Yen, Gómez-Curet, Ilsa, Funanage, Vicky L, Scavina, Mena, Wang, Wenlan
Publié 2009

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

par Dankwa, Lois, Richardson, Jessica, Motley, William W., Scavina, Mena, Courel, Steve, Bardakjian, Tanya, Züchner, Stephan, Scherer, Steven S.
Publié dans Neuromuscul Disord (2018)

An Eight Generation Family With CMTX: Confirmation Of The Pathogenicity Of A 3′ Untranslated Region Mutation In GJB1 And Its Clinical Features

par Chen, Dong-Hui, Ma, Maxwell, Scavina, Mena, Blue, Elizabeth, Wolff, John, Karna, Prasanthi, Dorschner, Michael O., Raskind, Wendy H., Bird, Thomas D.
Publié dans Muscle Nerve (2017)

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

par 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.
Publié dans Hum Mutat (2015)

SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR

par Stabley, Deborah L, Harris, Ashlee W, Holbrook, Jennifer, Chubbs, Nicholas J, Lozo, Kevin W, Crawford, Thomas O, Swoboda, Kathryn J, Funanage, Vicky L, Wang, Wenlan, Mackenzie, William, Scavina, Mena, Sol-Church, Katia, Butchbach, Matthew E R
Publié dans Mol Genet Genomic Med (2015)

Nephroblastomatosis or Wilms Tumor in a Fourth Patient With a Somatic PIK3CA Mutation

par 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, Robert, Mirzaa, Ghayda, Keppler-Noreuil, Kim M.
Publié dans Am J Med Genet A (2016)

Clinical, Pathological and Mutational Spectrum of Dystroglycanopathy Due to LARGE Mutations

par Meilleur, Katherine G., Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L., Alsaman, Abdulaziz, El-Hattab, Ayman W., Dastgir, Jahannaz, Hu, Ying, Donkervoort, Sandra, Golden, Jeffrey A., Eagle, Ralph, Finkel, Richard, Scavina, Mena, Hood, Ian C., Rorke-Adams, Lucy B., Bönnemann, Carsten G.
Publié dans J Neuropathol Exp Neurol (2014)

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

par Schessl, Joachim, Taratuto, Ana L., Sewry, Caroline, Battini, Roberta, Chin, Steven S., Maiti, Baijayanta, Dubrovsky, Alberto L., Erro, Marcela G., Espada, Graciela, Robertella, Monica, Saccoliti, Maria, Olmos, Patricia, Bridges, Leslie R., Standring, Peter, Hu, Ying, Zou, Yaqun, Swoboda, Kathryn J., Scavina, Mena, Goebel, Hans-Hilmar, Mitchell, Christina A., Flanigan, Kevin M., Muntoni, Francesco, Bönnemann, Carsten G.
Publié 2009

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

par Burns, David T., Donkervoort, Sandra, Müller, Juliane S., Knierim, Ellen, Bharucha-Goebel, Diana, Faqeih, Eissa Ali, Bell, Stephanie K., AlFaifi, Abdullah Y., Monies, Dorota, Millan, Francisca, Retterer, Kyle, Dyack, Sarah, MacKay, Sara, Morales-Gonzalez, Susanne, Giunta, Michele, Munro, Benjamin, Hudson, Gavin, Scavina, Mena, Baker, Laura, Massini, Tara C., Lek, Monkol, Hu, Ying, Ezzo, Daniel, AlKuraya, Fowzan S., Kang, Peter B., Griffin, Helen, Foley, A. Reghan, Schuelke, Markus, Horvath, Rita, Bönnemann, Carsten G.
Publié dans Am J Hum Genet (2018)

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

par Horvath, Rita, Kemp, John P., Tuppen, Helen A. L., Hudson, Gavin, Oldfors, Anders, Marie, Suely K. N., Moslemi, Ali-Reza, Servidei, Serenella, Holme, Elisabeth, Shanske, Sara, Kollberg, Gittan, Jayakar, Parul, Pyle, Angela, Marks, Harold M., Holinski-Feder, Elke, Scavina, Mena, Walter, Maggie C., Çoku, Jorida, Günther-Scholz, Andrea, Smith, Paul M., McFarland, Robert, Chrzanowska-Lightowlers, Zofia M. A., Lightowlers, Robert N., Hirano, Michio, Lochmüller, Hanns, Taylor, Robert W., Chinnery, Patrick F., Tulinius, Mar, DiMauro, Salvatore
Publié 2009

Mutations in NGLY1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation (ERAD) Pathway

par Enns, Gregory M., Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J., Zahir, Farah R., Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan, Scavina, Mena, Walter, Rhonda S., Bibb, Audrey, Jones, Melanie, Hegde, Madhuri, Graham, Brett H., Need, Anna C., Oviedo, Angelica, Schaaf, Christian P., Boyle, Sean, Butte, Atul J., Chen, Rong, Clark, Michael J., Haraksingh, Rajini, Cowan, Tina M., He, Ping, Langlois, Sylvie, Zoghbi, Huda Y., Snyder, Michael, Gibbs, Richard, Freeze, Hudson H., Goldstein, David B.
Publié dans Genet Med (2014)