Readthrough Strategies for Suppression of Nonsense Mutations in Duchenne/Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)

Por Finkel, Richard S.
Publicado em 2010

Guia de dispensação de produtos terapêuticos que não exigem prescrição /

Por Finkel, Richard., Pray, W. Steven.
Publicado em 2007.

Widening gap in age at muscular dystrophy–associated death between blacks and whites, 1986–2005

Por Kenneson, Aileen, Vatave, Ajay, Finkel, Richard
Publicado em 2010

Spinal Muscular Atrophy Type I: Is It Ethical to Standardize Supportive Care Intervention in Clinical Trials?

Por Finkel, Richard S., Bishop, Kathie M., Nelson, Robert M.
Publicado no J Child Neurol (2016)

Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease

Por Swarr, Daniel T., Kaufman, Beth, Fogel, Mark A., Finkel, Richard, Ganesh, Jaya
Publicado em 2011

Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy

Por Pierson, Tyler Mark, Bonnemann, Carsten G, Finkel, Richard S, Bunin, Nancy, Tennekoon, Gihan I
Publicado em 2008

SMA-EUROPE workshop report: opportunities and challenges in developing clinical trials for spinal muscular atrophy in Europe

Por Kayadjanian, Nathalie, Burghes, Arthur, Finkel, Richard S, Mercuri, Eugenio, Rouault, Francoise, Schwersenz, Inge, Talbot, Kevin
Publicado em 2013

Serial Casting for the Management of Ankle Contracture in Duchenne Muscular Dystrophy

Por Glanzman, Allan M., Flickinger, Jean M., Dholakia, Kripa H., Bönnemann, Carsten G., Finkel, Richard S.
Publicado no Pediatr Phys Ther (2011)

UNRELATED UMBILICAL CORD BLOOD TRANSPLANT FOR JUVENILE METACHROMATIC LEUKODYSTROPHY: A FIVE-YEAR FOLLOW-UP IN THREE AFFECTED SIBLINGS

Por Cable, Casey, Finkel, Richard S, Lehky, Tanya J, Biassou, Nadia M, Wiggs, Edythe A, Bunin, Nancy, Pierson, Tyler Mark
Publicado em 2010

GFPT1-myasthenia: Clinical, structural, and electrophysiologic heterogeneity

Por Selcen, Duygu, Shen, Xin-Ming, Milone, Margherita, Brengman, Joan, Ohno, Kinji, Deymeer, Feza, Finkel, Richard, Rowin, Julie, Engel, Andrew G.
Publicado em 2013

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

Por Harding, Brian N., Kariya, Shingo, Monani, Umrao R., Chung, Wendy K., Benton, Maryjane, Yum, Sabrina W., Tennekoon, Gihan, Finkel, Richard S.
Publicado no J Neuropathol Exp Neurol (2015)

MRI/MRS Evaluation of a Female Carrier of Duchenne Muscular Dystrophy

Por Forbes, Sean C., Lott, Donovan J., Finkel, Richard S., Senesac, Claudia, Byrne, Barry J., Sweeney, H. L., Walter, Glenn A., Vandenborne, Krista
Publicado em 2012

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

Por Banugaria, Suhrad G., Prater, Sean N., Ng, Yiu-Ki, Kobori, Joyce A., Finkel, Richard S., Ladda, Roger L., Chen, Yuan-Tsong, Rosenberg, Amy S., Kishnani, Priya S.
Publicado em 2011

Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease

Por Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Eichinger, Kate, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.
Publicado em 2012

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

Por Finkel, Richard S., Flanigan, Kevin M., Wong, Brenda, Bönnemann, Carsten, Sampson, Jacinda, Sweeney, H. Lee, Reha, Allen, Northcutt, Valerie J., Elfring, Gary, Barth, Jay, Peltz, Stuart W.
Publicado em 2013

Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase

Por Pierson, Tyler Mark, Torres, Paola A., Zeng, Bei-Jin, Glanzman, Allan M., Adams, David, Finkel, Richard S., Mahuran, Don J., Pastores, Gregory M., Tennekoon, Gihan I., Kolodny, Edwin H.
Publicado em 2012

Validation of the CMT Pediatric Scale as an outcome measure of disability

Por Burns, Joshua, Ouvrier, Robert, Estilow, Tim, Shy, Rosemary, Laurá, Matilde, Pallant, Julie F., Lek, Monkol, Muntoni, Francesco, Reilly, Mary M., Pareyson, Davide, Acsadi, Gyula, Shy, Michael E., Finkel, Richard S.
Publicado em 2012

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

Por Bharucha-Goebel, Diana Xerxes, Santi, Mariarita, Medne, Līvija, Zukosky, Kristin, Dastgir, Jahannaz, Shieh, Perry B., Winder, Thomas, Tennekoon, Gihan, Finkel, Richard S., Dowling, James J., Monnier, Nicole, Bönnemann, Carsten G.
Publicado em 2013

The motor neuron response to SMN1 deficiency in spinal muscular atrophy

Por Kang, Peter B., Gooch, Clifton L., McDermott, Michael P., Darras, Basil T., Finkel, Richard S., Yang, Michele L., Sproule, Douglas M., Chung, Wendy K., Kaufmann, Petra, De Vivo, Darryl C.
Publicado em 2014

Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents and young adults with Charcot-Marie-Tooth disease

Por Burns, Joshua, Menezes, Manoj, Finkel, Richard S., Estilow, Tim, Moroni, Isabella, Pagliano, Emanuela, Laurá, Matilde, Muntoni, Francesco, Herrmann, David N., Eichinger, Kate, Shy, Rosemary, Pareyson, Davide, Reilly, Mary M., Shy, Michael E.
Publicado em 2013