Carrier screening for spinal muscular atrophy

por Prior, Thomas W.
Publicado 2008

Next-generation carrier screening: are we ready?

por Prior, Thomas W
Publicado 2014

A case report of genetic prion disease with two different PRNP variants

por Piazza, Megan, Prior, Thomas W., Khalsa, Prabhjot S., Appleby, Brian
Publicado 2020

Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance

por Keinath, Melissa C, Prior, Devin E, Prior, Thomas W
Publicado 2021

Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects

por Berisha, Stela Z., Shetty, Shashi, Prior, Thomas W., Mitchell, Anna L.
Publicado 2020

SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials

por Zaworski, Phillip, von Herrmann, Katharine M., Taylor, Shannon, Sunshine, Sara S., McCarthy, Kathleen, Risher, Nicole, Newcomb, Tara, Weetall, Marla, Prior, Thomas W., Swoboda, Kathryn J., Chen, Karen S., Paushkin, Sergey
Publicado 2016

Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion

por Brennecke, Nicholas, Cali, Ignazio, Mok, Tze How, Speedy, Helen, Hosszu, Laszlo L. P., Stehmann, Christiane, Cracco, Laura, Puoti, Gianfranco, Prior, Thomas W., Cohen, Mark L., Collins, Steven J., Mead, Simon, Appleby, Brian S.
Publicado 2021

Spinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults

por Renusch, Samantha R., Harshman, Sean, Pi, Hongyang, Workman, Eileen, Wehr, Allison, Li, Xiaobai, Prior, Thomas W., Elsheikh, Bakri H., Swoboda, Kathryn J., Simard, Louise R., Kissel, John T., Battle, Daniel, Parthun, Mark R., Freitas, Michael A., Kolb, Stephen J.
Publicado 2015

Phase II Open Label Study of Valproic Acid in Spinal Muscular Atrophy

por Swoboda, Kathryn J., Scott, Charles B., Reyna, Sandra P., Prior, Thomas W., LaSalle, Bernard, Sorenson, Susan L., Wood, Janine, Acsadi, Gyula, Crawford, Thomas O., Kissel, John T., Krosschell, Kristin J., D'Anjou, Guy, Bromberg, Mark B., Schroth, Mary K., Chan, Gary M., Elsheikh, Bakri, Simard, Louise R.
Publicado 2009

SMA CARNI-VAL TRIAL PART II: A Prospective, Single-Armed Trial of L-Carnitine and Valproic Acid in Ambulatory Children with Spinal Muscular Atrophy

por Kissel, John T., Scott, Charles B., Reyna, Sandra P., Crawford, Thomas O., Simard, Louise R., Krosschell, Kristin J., Acsadi, Gyula, Elsheik, Bakri, Schroth, Mary K., D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W., Sorenson, Susan, Maczulski, Jo Anne, Bromberg, Mark B., Chan, Gary M., Swoboda, Kathryn J.
Publicado 2011

SMA CARNI-VAL Trial Part I: Double-Blind, Randomized, Placebo-Controlled Trial of L-Carnitine and Valproic Acid in Spinal Muscular Atrophy

por Swoboda, Kathryn J., Scott, Charles B., Crawford, Thomas O., Simard, Louise R., Reyna, Sandra P., Krosschell, Kristin J., Acsadi, Gyula, Elsheik, Bakri, Schroth, Mary K., D'Anjou, Guy, LaSalle, Bernard, Prior, Thomas W., Sorenson, Susan L., Maczulski, Jo Anne, Bromberg, Mark B., Chan, Gary M., Kissel, John T.
Publicado 2010

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial

por Jahn, Nikolaus, Jahn, Ekaterina, Saadati, Maral, Bullinger, Lars, Larson, Richard A., Ottone, Tiziana, Amadori, Sergio, Prior, Thomas W., Brandwein, Joseph M., Appelbaum, Frederick R., Medeiros, Bruno C., Tallman, Martin S., Ehninger, Gerhard, Heuser, Michael, Ganser, Arnold, Pallaud, Celine, Gathmann, Insa, Krzykalla, Julia, Benner, Axel, Bloomfield, Clara D., Thiede, Christian, Stone, Richard M., Döhner, Hartmut, Döhner, Konstanze
Publicado 2022

Molecular landscape and prognostic impact of FLT3-ITD insertion site in acute myeloid leukemia: RATIFY study results

por Rücker, Frank G., Du, Ling, Luck, Tamara J., Benner, Axel, Krzykalla, Julia, Gathmann, Insa, Voso, Maria Teresa, Amadori, Sergio, Prior, Thomas W., Brandwein, Joseph M., Appelbaum, Frederick R., Medeiros, Bruno C., Tallman, Martin S., Savoie, Lynn, Sierra, Jorge, Pallaud, Celine, Sanz, Miguel A., Jansen, Joop H., Niederwieser, Dietger, Fischer, Thomas, Ehninger, Gerhard, Heuser, Michael, Ganser, Arnold, Bullinger, Lars, Larson, Richard A., Bloomfield, Clara D., Stone, Richard M., Döhner, Hartmut, Thiede, Christian, Döhner, Konstanze
Publicado 2021

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

por Kolb, Stephen J., Coffey, Christopher S., Yankey, Jon W., Krosschell, Kristin, Arnold, W. David, Rutkove, Seward B., Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan T., Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Finkel, Richard, Kaye, Edward, Kingsley, Allison, Renusch, Samantha R., McGovern, Vicki L., Wang, Xueqian, Zaworski, Phillip G., Prior, Thomas W., Burghes, Arthur H.M., Bartlett, Amy, Kissel, John T.
Publicado 2016