Search Results - "Crawford, Thomas O."

Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain by Sumner, Charlotte J, Crawford, Thomas O

“…The motor neuron disease spinal muscular atrophy (SMA) is caused by recessive, loss-of-function mutations of the survival motor neuron 1 gene (SMN1). Alone,…”
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Ataxia telangiectasia: a review by Rothblum-Oviatt, Cynthia, Wright, Jennifer, Lefton-Greif, Maureen A, McGrath-Morrow, Sharon A, Crawford, Thomas O, Lederman, Howard M

“…Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer…”
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Neurofilament as a potential biomarker for spinal muscular atrophy by Darras, Basil T., Crawford, Thomas O., Finkel, Richard S., Mercuri, Eugenio, De Vivo, Darryl C., Oskoui, Maryam, Tizzano, Eduardo F., Ryan, Monique M., Muntoni, Francesco, Zhao, Guolin, Staropoli, John, McCampbell, Alexander, Petrillo, Marco, Stebbins, Christopher, Fradette, Stephanie, Farwell, Wildon, Sumner, Charlotte J.

“…Objective To evaluate plasma phosphorylated neurofilament heavy chain (pNF‐H) as a biomarker in spinal muscular atrophy (SMA). Methods Levels of pNF‐H were…”
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Motor and Cognitive Delay in Duchenne Muscular Dystrophy: Implication for Early Diagnosis by Mirski, Kara T., BA, Crawford, Thomas O., MD

“…Objectives To examine the relationship between delay in the age of first independent walking and cognitive impairment in boys with Duchenne muscular dystrophy…”
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Consensus Statement for Standard of Care in Spinal Muscular Atrophy by Wang, Ching H., Finkel, Richard S., Bertini, Enrico S., Schroth, Mary, Simonds, Anita, Wong, Brenda, Aloysius, Annie, Morrison, Leslie, Main, Marion, Crawford, Thomas O., Trela, Anthony

“…Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular…”
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SMN Is Essential for the Biogenesis of U7 Small Nuclear Ribonucleoprotein and 3′-End Formation of Histone mRNAs by Tisdale, Sarah, Lotti, Francesco, Saieva, Luciano, Van Meerbeke, James P., Crawford, Thomas O., Sumner, Charlotte J., Mentis, George Z., Pellizzoni, Livio

“…Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a deficiency in the survival motor neuron (SMN) protein. SMN mediates the assembly of…”
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Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study by Crawford, Thomas O, Paushkin, Sergey V, Kobayashi, Dione T, Forrest, Suzanne J, Joyce, Cynthia L, Finkel, Richard S, Kaufmann, Petra, Swoboda, Kathryn J, Tiziano, Danilo, Lomastro, Rosa, Li, Rebecca H, Trachtenberg, Felicia L, Plasterer, Thomas, Chen, Karen S

“…The universal presence of a gene (SMN2) nearly identical to the mutated SMN1 gene responsible for Spinal Muscular Atrophy (SMA) has proved an enticing…”
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Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy by Waldrop, Megan A., Moore, Steven A., Mathews, Katherine D., Darbro, Benjamin W., Medne, Livja, Finkel, Richard, Connolly, Anne M., Crawford, Thomas O., Drachman, Daniel, Wein, Nicolas, Habib, Ali A., Krzesniak‐Swinarska, Monika A., Zaidman, Craig M., Collins, James J., Jokela, Manu, Udd, Bjarne, Day, John W., Ortiz‐Guerrero, Gloria, Statland, Jeff, Butterfield, Russell J., Dunn, Diane M., Weiss, Robert B., Flanigan, Kevin M.

“…DMD pathogenic variants for Duchenne and Becker muscular dystrophy are detectable with high sensitivity by standard clinical exome analyses of genomic DNA…”
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The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases by Auslander, Noam, Ramos, Daniel M, Zelaya, Ivette, Karathia, Hiren, Crawford, Thomas O., Schäffer, Alejandro A, Sumner, Charlotte J, Ruppin, Eytan

“…Modifier genes are believed to account for the clinical variability observed in many Mendelian disorders, but their identification remains challenging due to…”
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Growth in ataxia telangiectasia by Natale, Valerie A I, Cole, Tim J, Rothblum-Oviatt, Cynthia, Wright, Jennifer, Crawford, Thomas O, Lefton-Greif, Maureen A, McGrath-Morrow, Sharon A, Schlechter, Haley, Lederman, Howard M

“…Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features…”
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Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study by Finkel, Richard S, Crawford, Thomas O, Swoboda, Kathryn J, Kaufmann, Petra, Juhasz, Peter, Li, Xiaohong, Guo, Yu, Li, Rebecca H, Trachtenberg, Felicia, Forrest, Suzanne J, Kobayashi, Dione T, Chen, Karen S, Joyce, Cynthia L, Plasterer, Thomas

“…Spinal Muscular Atrophy (SMA) is a neurodegenerative motor neuron disorder resulting from a homozygous mutation of the survival of motor neuron 1 (SMN1) gene…”
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SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy by 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

“…Valproic acid (VPA) has demonstrated potential as a therapeutic candidate for spinal muscular atrophy (SMA) in vitro and in vivo. Two cohorts of subjects were…”
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Growing Rods for Scoliosis in Spinal Muscular Atrophy: Structural Effects, Complications, and Hospital Stays by MCELROY, Mark J, SHANER, Adam C, CRAWFORD, Thomas O, THOMPSON, George H, KADAKIA, Rishi V, AKBARNIA, Behrooz A, SKAGGS, David L, EMANS, John B, SPONSELLER, Paul D

“…Retrospective analysis of patients with spinal muscular atrophy (SMA) treated with growing rod (GR) instrumentation for scoliosis. To evaluate structural…”
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Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study by Crawford, Thomas O, Day, John W, De Vivo, Darryl C, Krueger, Jena M, Mercuri, Eugenio, Nascimento, Andres, Pasternak, Amy, Mazzone, Elena Stacy, Duong, Tina, Song, Guochen, Marantz, Jing L, Baver, Scott, Yu, Dongzi, Liu, Lan, Darras, Basil T

“…At 12 months in the phase 2 TOPAZ study, treatment with apitegromab was associated with both an improved motor function in patients with Type 2 or 3 spinal…”
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Phase II open label study of valproic acid in spinal muscular atrophy by 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

“…Preliminary in vitro and in vivo studies with valproic acid (VPA) in cell lines and patients with spinal muscular atrophy (SMA) demonstrate increased…”
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Correction to: Growth in ataxia telangiectasia by Natale, Valerie A. I, Cole, Tim J, Rothblum-Oviatt, Cynthia, Wright, Jennifer, Crawford, Thomas O, Lefton-Greif, Maureen A, McGrath-Morrow, Sharon A, Schlechter, Haley, Lederman, Howard M

“…An amendment to this paper has been published and can be accessed via the original article…”
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Disorders of Upper Limb Movements in Ataxia-Telangiectasia by Shaikh, Aasef G, Zee, David S, Mandir, Allen S, Lederman, Howard M, Crawford, Thomas O

“…Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the…”
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Myelin-associated glycoprotein and complementary axonal ligands, gangliosides, mediate axon stability in the CNS and PNS: Neuropathology and behavioral deficits in single- and double-null mice by Pan, Baohan, Fromholt, Susan E., Hess, Ellen J., Crawford, Thomas O., Griffin, John W., Sheikh, Kazim A., Schnaar, Ronald L.

“…Complementary interacting molecules on myelin and axons are required for long-term axon–myelin stability. Their disruption results in axon degeneration,…”
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Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability by Donkervoort, Sandra, Hu, Ying, Stojkovic, Tanya, Voermans, Nicol C., Foley, A. Reghan, Leach, Meganne E., Dastgir, Jahannaz, Bolduc, Véronique, Cullup, Thomas, de Becdelièvre, Alix, Yang, Lin, Su, Hai, Meilleur, Katherine, Schindler, Alice B., Kamsteeg, Erik-Jan, Richard, Pascale, Butterfield, Russell J., Winder, Thomas L., Crawford, Thomas O., Weiss, Robert B., Muntoni, Francesco, Allamand, Valérie, Bönnemann, Carsten G.

“…ABSTRACT Collagen 6‐related dystrophies and myopathies (COL6‐RD) are a group of disorders that form a wide phenotypic spectrum, ranging from severe Ullrich…”
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TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function by Taga, Arens, Peyton, Margo A., Goretzki, Benedikt, Gallagher, Thomas Q., Ritter, Ann, Harper, Amy, Crawford, Thomas O., Hellmich, Ute A., Sumner, Charlotte J., McCray, Brett A.

“…Objective Distinct dominant mutations in the calcium‐permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically cause nonoverlapping…”
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