Disorders of Upper Limb Movements in Ataxia-Telangiectasia

Por Shaikh, Aasef G., Zee, David S., Mandir, Allen S., Lederman, Howard M., Crawford, Thomas O.
Publicado em 2013

A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy

Por Krosschell, Kristin J., Maczulski, Jo Anne, Crawford, Thomas O., Scott, Charles, Swoboda, Kathryn J.
Publicado em 2006

Brain glucose metabolism in adults with ataxia-telangiectasia and their asymptomatic relatives

Por Volkow, Nora D., Tomasi, Dardo, Wang, Gene-Jack, Studentsova, Yana, Margus, Brad, Crawford, Thomas O.
Publicado em 2014

Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia

Por Lefton-Greif, Maureen A, Perlman, Adrienne L, He, Xuming, Lederman, Howard M, Crawford, Thomas O
Publicado no Dev Med Child Neurol (2016)

Prevalence and distribution of regional scar in dysfunctional myocardial segments in Duchenne muscular dystrophy

Por Crawford Thomas O, Dori Yoav, Plitt David, Salerno Michael, Bilchick Kenneth C, Drachman Daniel, Thompson W Reid
Publicado em 2011-03-01

Extrapyramidal signs in normal pressure hydrocephalus: an objective assessment

Por Mandir, Allen S, Hilfiker, Jennifer, Thomas, George, Minahan, Robert E, Crawford, Thomas O, Williams, Michael A, Rigamonti, Daniele
Publicado em 2007

Neurofilament-dependent Radial Growth of Motor Axons and Axonal Organization of Neurofilaments Does Not Require the Neurofilament Heavy Subunit (NF-H) or Its Phosphorylation

Por Rao, Mala V., Houseweart, Megan K., Williamson, Toni L., Crawford, Thomas O., Folmer, Janet, Cleveland, Don W.
Publicado em 1998

Prevalence and distribution of regional scar in dysfunctional myocardial segments in Duchenne muscular dystrophy

Por Bilchick, Kenneth C, Salerno, Michael, Plitt, David, Dori, Yoav, Crawford, Thomas O, Drachman, Daniel, Thompson, W Reid
Publicado em 2011

Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia

Por Lefton-Greif, Maureen A, Crawford, Thomas O, McGrath-Morrow, Sharon, Carson, Kathryn A, Lederman, Howard M
Publicado em 2011

Myelin-associated glycoprotein and complementary axonal ligands, gangliosides, mediate axon stability in the CNS and PNS: Neuropathology and behavioral deficits in single- and doub...

Por Pan, Baohan, Fromholt, Susan E., Hess, Ellen J., Crawford, Thomas O., Griffin, John W., Sheikh, Kazim A., Schnaar, Ronald L.
Publicado em 2005

Ataxia telangiectasia: a review

Por Rothblum-Oviatt, Cynthia, Wright, Jennifer, Lefton-Greif, Maureen A., McGrath-Morrow, Sharon A., Crawford, Thomas O., Lederman, Howard M.
Publicado no Orphanet J Rare Dis (2016)

Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects

Por Sheikh, Kazim A., Sun, Ji, Liu, Yujing, Kawai, Hiromichi, Crawford, Thomas O., Proia, Richard L., Griffin, John W., Schnaar, Ronald L.
Publicado em 1999

SMN is essential for the biogenesis of U7 snRNP and 3′-end formation of histone mRNAs

Por Tisdale, Sarah, Lotti, Francesco, Saieva, Luciano, Van Meerbeke, James P., Crawford, Thomas O., Sumner, Charlotte J., Mentis, George Z., Pellizzoni, Livio
Publicado em 2013

Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR

Por Stabley, Deborah L., Holbrook, Jennifer, Harris, Ashlee W., Swoboda, Kathryn J., Crawford, Thomas O., Sol-Church, Katia, Butchbach, Matthew E. R.
Publicado no Neuromuscul Disord (2017)

A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice

Por Workman, Eileen, Saieva, Luciano, Carrel, Tessa L., Crawford, Thomas O., Liu, Don, Lutz, Cathleen, Beattie, Christine E., Pellizzoni, Livio, Burghes, Arthur H.M.
Publicado em 2009

A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1

Por Johnston, Jennifer J., Kelley, Richard I., Crawford, Thomas O., Morton, D. Holmes, Agarwala, Richa, Koch, Thorsten, Schäffer, Alejandro A., Francomano, Clair A., Biesecker, Leslie G.
Publicado em 2000

Proteomic Characterization of Cerebrospinal Fluid from Ataxia-Telangiectasia (A-T) Patients Using a LC/MS-Based Label-Free Protein Quantification Technology

Por Dzieciatkowska, Monika, Qi, Guihong, You, Jinsam, Bemis, Kerry G., Sahm, Heather, Lederman, Howard M., Crawford, Thomas O., Gelbert, Lawrence M., Rothblum-Oviatt, Cynthia, Wang, Mu
Publicado em 2011

Pulmonary Function in Children and Young Adults With Ataxia Telangiectasia

Por McGrath-Morrow, Sharon A., Lederman, Howard M., Aherrera, Angela D., Lefton-Greif, Maureen A., Crawford, Thomas O., Ryan, Timothy, Wright, Jennifer, Collaco, Joseph M.
Publicado no Pediatr Pulmonol (2013)

Functional Consequences and Structural Interpretation of Mutations of Human Choline Acetyltransferase

Por Shen, Xin-Ming, Crawford, Thomas O., Brengman, Joan, Acsadi, Gyula, Iannaconne, Susan, Karaca, Emin, Khoury, Chaouky, Mah, Jean K., Edvardson, Shimon, Bajzer, Zeljko, Rodgers, David, Engel, Andrew G.
Publicado em 2011

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

Por Gavrilina, Tatiana O., McGovern, Vicki L., Workman, Eileen, Crawford, Thomas O., Gogliotti, Rocky G., DiDonato, Christine J., Monani, Umrao R., Morris, Glenn E., Burghes, Arthur H.M.
Publicado em 2008