Spinal muscular atrophy treatments, newborn screening, and the creation of a neurogenetics urgency

par Butterfield, Russell J.
Publié dans Semin Pediatr Neurol (2021)

Development, Implementation, and Use of a Neurology Therapeutics Committee

par Clark, Edward B., Butterfield, Russell J., Filloux, Francis M., Bonkowsky, Joshua L.
Publié dans Child Neurol Open (2019)

A Qualitative Approach to Health Related Quality-of-Life in Congenital Muscular Dystrophy

par Cornwall, Kylie M., Butterfield, Russell J., Hernandez, Antonio, Heatwole, Chad, Johnson, Nicholas E.
Publié dans J Neuromuscul Dis (2018)

Myopathy in the York Platelet Syndrome: An Underrecognized Complication

par Roman, Joy, Palmer, Michael I., Palmer, Cheryl A., Johnson, Nicholas E., Butterfield, Russell J.
Publié dans Case Rep Pathol (2018)

Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy

par Butterfield, Russell J., Dunn, Diane M., Hu, Ying, Johnson, Kory, Bönnemann, Carsten G., Weiss, Robert B.
Publié dans PLoS One (2017)

Cost-Effectiveness of Nusinersen and Universal Newborn Screening for Spinal Muscular Atrophy

par Jalali, Ali, Rothwell, Erin, Botkin, Jeffrey R., Anderson, Rebecca A., Butterfield, Russell J, Nelson, Richard E.
Publié dans J Pediatr (2020)

Gender, Age, and Season at Immunization Uniquely Influence the Genetic Control of Susceptibility to Histopathological Lesions and Clinical Signs of Experimental Allergic Encephalom...

par Teuscher, Cory, Bunn, Janice Y., Fillmore, Parley D., Butterfield, Russell J., Zachary, James F., Blankenhorn, Elizabeth P.
Publié 2004

Identification of Genetic Loci Controlling the Characteristics and Severity of Brain and Spinal Cord Lesions in Experimental Allergic Encephalomyelitis

par Butterfield, Russell J., Blankenhorn, Elizabeth P., Roper, Randall J., Zachary, James F., Doerge, R. W., Teuscher, Cory
Publié 2000

DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy

par Van Dorn, Charlotte S., Puchalski, Michael D., Weng, Hsin-Yi, Bleyl, Steven B., Butterfield, Russell J., Williams, Richard V.
Publié dans Cardiol Young (2018)

Sex-specific quantitative trait loci govern susceptibility to Theiler's murine encephalomyelitis virus-induced demyelination.

par Butterfield, Russell J, Roper, Randall J, Rhein, Dominic M, Melvold, Roger W, Haynes, Lia, Ma, Runlin Z, Doerge, R W, Teuscher, Cory
Publié 2003

Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program

par Johnson, Nicholas E., Butterfield, Russell J., Mayne, Katie, Newcomb, Tara, Imburgia, Carina, Dunn, Diane, Duval, Brett, Feldkamp, Marcia L., Weiss, Robert B.
Publié dans Neurology (2021)

Genetics of EAE Supports the Role of T Helper Cells in MS Pathogenesis Running head: Critical genetic role for T cells in MS and EAE

par Blankenhorn, Elizabeth P., Butterfield, Russell, Case, Laure K., Wall, Emma H., del Rio, Roxana, Diehl, Sean A., Krementsov, Dimitry, Saligrama, Naresha, Teuscher, Cory
Publié 2011

Physical Function and Mobility in Children with Congenital Myotonic Dystrophy

par Pucillo, Evan M., DiBella, Deanna L., Hung, Man, Bounsanga, Jerry, Crockett, Becky, Dixon, Melissa, Butterfield, Russell J., Campbell, Craig, Johnson, Nicholas E.
Publié dans Muscle Nerve (2017)

High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis

par Butterfield, Russell J., Imburgia, Carina, Mayne, Katie, Newcomb, Tara, Dunn, Diane M., Duval, Brett, Feldkamp, Marcia L., Johnson, Nicholas E., Weiss, Robert B.
Publié dans Mol Genet Genomic Med (2021)

Orofacial strength, dysarthria, and dysphagia in Congenital Myotonic Dystrophy

par Berggren, Kiera N, Hung, Man, Dixon, Melissa M., Bounsanga, Jerry, Crockett, Becky, Foye, Mary D., Gu, Yushan, Campbell, Craig, Butterfield, Russell J, Johnson, Nicholas E
Publié dans Muscle Nerve (2018)

Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study

par Johnson, Nicholas E., Butterfield, Russell, Berggren, Kiera, Hung, Man, Chen, Wei, DiBella, Deanna, Dixon, Melissa, Hayes, Heather, Pucillo, Evan, Bounsanga, Jerry, Heatwole, Chad, Campbell, Craig
Publié dans Neurology (2016)

Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools

par Ward, Alistair, Karren, Mary A., Di Sera, Tonya, Miller, Chase, Velinder, Matt, Qiao, Yi, Filloux, Francis M., Ostrander, Betsy, Butterfield, Russell, Bonkowsky, Joshua L., Dere, Willard, Marth, Gabor T.
Publié dans J Clin Transl Sci (2018)

Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies

par Butterfield, Russell J., Foley, A. Reghan, Dastgir, Jahannaz, Asman, Stephanie, Dunn, Diane M., Zou, Yaqun, Hu, Ying, Flanigan, Kevin M., Swoboda, Kathryn J., Winder, Thomas L., Weiss, Robert B., Bönnemann, Carsten G.
Publié dans Hum Mutat (2013)

Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy

par Ostrander, Betsy E. P., Butterfield, Russell J., Pedersen, Brent S., Farrell, Andrew J., Layer, Ryan M., Ward, Alistair, Miller, Chase, DiSera, Tonya, Filloux, Francis M., Candee, Meghan S., Newcomb, Tara, Bonkowsky, Joshua L., Marth, Gabor T., Quinlan, Aaron R.
Publié dans NPJ Genom Med (2018)

Spinal muscular atrophy care in the COVID‐19 pandemic era

par Veerapandiyan, Aravindhan, Connolly, Anne M., Finkel, Richard S., Arya, Kapil, Mathews, Katherine D., Smith, Edward C., Castro, Diana, Butterfield, Russell J., Parsons, Julie A., Servais, Laurent, Kuntz, Nancy, Rao, Vamshi K., Brandsema, John F., Mercuri, Eugenio, Ciafaloni, Emma
Publié dans Muscle Nerve (2020)