Search Results - "Siskind, Carly"

Charcot-marie-tooth disease subtypes and genetic testing strategies by Saporta, Anita S.D., Sottile, Stephanie L., Miller, Lindsey J., Feely, Shawna M.E., Siskind, Carly E., Shy, Michael E.

“…Objective Charcot‐Marie‐Tooth disease (CMT) affects 1 in 2,500 people and is caused by mutations in more than 30 genes. Identifying the genetic cause of CMT is…”
Get full text

Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study by Meyer, Alayne P, Barnett, Cara L, Myers, Katherine, Siskind, Carly E, Moscarello, Tia, Logan, Rachel, Roggenbuck, Jennifer, Rich, Kelly A

“…Pathogenic variants in cause a spectrum of autosomal dominant and recessive cardiovascular, skeletal muscle and cardioskeletal disease with symptom onset…”
Get more information

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores by Fridman, Vera, Sillau, Stefan, Acsadi, Gyula, Bacon, Chelsea, Dooley, Kimberly, Burns, Joshua, Day, John, Feely, Shawna, Finkel, Richard S., Grider, Tiffany, Gutmann, Laurie, Herrmann, David N., Kirk, Callyn A., Knause, Sarrah A., Laurá, Matilde, Lewis, Richard A., Li, Jun, Lloyd, Thomas E., Moroni, Isabella, Muntoni, Francesco, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Giuseppe, Ramchandren, Sindhu, Saporta, Mario, Sadjadi, Reza, Shy, Rosemary R., Siskind, Carly E., Sumner, Charlotte J., Walk, David, Wilcox, Janel, Yum, Sabrina W., Züchner, Stephan, Scherer, Steven S., Pareyson, Davide, Reilly, Mary M., Shy, Michael E.

“…OBJECTIVETo evaluate the sensitivity of Rasch analysis-based, weighted Charcot-Marie-Tooth Neuropathy and Examination Scores (CMTNS-R and CMTES-R) to clinical…”
Get full text

Validation of the parent‐proxy pediatric Charcot‐Marie‐Tooth disease quality of life outcome measure by Wu, Tong Tong, Finkel, Richard S., Siskind, Carly E., Feely, Shawna M.E., Burns, Joshua, Reilly, Mary M., Muntoni, Francesco, Estilow, Timothy, Shy, Michael E., Ramchandren, Sindhu

“…Charcot‐Marie‐Tooth disease (CMT) reduces health‐related quality of life (QOL) in children. We have previously developed and validated the English and Italian…”
Get full text

Development and Validation of the Pediatric Charcot–Marie–Tooth Disease Quality of Life Outcome Measure by Ramchandren, Sindhu, Wu, Tong Tong, Finkel, Richard S., Siskind, Carly E., Feely, Shawna M. E., Burns, Joshua, Reilly, Mary M., Estilow, Timothy, Shy, Michael E.

“…Objective Charcot–Marie–Tooth disease (CMT) reduces health‐related quality of life (QOL), especially in children. Defining QOL in pediatric CMT can help…”
Get full text

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene by Sanmaneechai, Oranee, Feely, Shawna, Scherer, Steven S, Herrmann, David N, Burns, Joshua, Muntoni, Francesco, Li, Jun, Siskind, Carly E, Day, John W, Laura, Matilde, Sumner, Charlotte J, Lloyd, Thomas E, Ramchandren, Sindhu, Shy, Rosemary R, Grider, Tiffany, Bacon, Chelsea, Finkel, Richard S, Yum, Sabrina W, Moroni, Isabella, Piscosquito, Giuseppe, Pareyson, Davide, Reilly, Mary M, Shy, Michael E

“…We aimed to characterize genotype-phenotype correlations and establish baseline clinical data for peripheral neuropathies caused by mutations in the myelin…”
Get full text

Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study by Fridman, Vera, Sillau, Stefan, Bockhorst, Jacob, Smith, Kaitlin, Moroni, Isabella, Pagliano, Emanuela, Pisciotta, Chiara, Piscosquito, Guiseppe, Laurá, Matilde, Muntoni, Francesco, Bacon, Chelsea, Feely, Shawna, Grider, Tiffany, Gutmann, Laurie, Shy, Rosemary, Wilcox, Janel, Herrmann, David N., Li, Jun, Ramchandren, Sindhu, Sumner, Charlotte J., Lloyd, Thomas E., Day, John, Siskind, Carly E., Yum, Sabrina W., Sadjadi, Reza, Finkel, Richard S., Scherer, Steven S., Pareyson, Davide, Reilly, Mary M., Shy, Michael E.

“…Objective The paucity of longitudinal natural history studies in MPZ neuropathy remains a barrier to clinical trials. We have completed a longitudinal natural…”
Get full text

Myelin abnormality in Charcot–Marie–Tooth type 4J recapitulates features of acquired demyelination by Hu, Bo, McCollum, Megan, Ravi, Vignesh, Arpag, Sezgi, Moiseev, Daniel, Castoro, Ryan, Mobley, Bret, Burnette, Bryan, Siskind, Carly, Day, John, Yawn, Robin, Feely, Shawna, Li, Yuebing, Yan, Qing, Shy, Michael, Li, Jun

“…Objective Charcot–Marie–Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. This…”
Get full text

Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease by Yiu, Eppie M, Bray, Paula, Baets, Jonathan, Baker, Steven K, Barisic, Nina, de Valle, Katy, Estilow, Timothy, Farrar, Michelle A, Finkel, Richard S, Haberlová, Jana, Kennedy, Rachel A, Moroni, Isabella, Nicholson, Garth A, Ramchandren, Sindhu, Reilly, Mary M, Rose, Kristy, Shy, Michael E, Siskind, Carly E, Yum, Sabrina W, Menezes, Manoj P, Ryan, Monique M, Burns, Joshua

“…Background and objectivesCharcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy and often presents during childhood. Guidelines for the…”
Get full text

Supervision in genetic counselor training in North America: A systematic review by Siskind, Carly E., Atzinger, Carrie L.

“…Genetic counseling has been a profession for over 40 years, and training programs accredited by the Accreditation Council for Genetic Counseling are required…”
Get full text

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders by Liu, James, He, Yi, Lwin, Cara, Han, Marina, Guan, Bin, Naik, Amelia, Bender, Chelsea, Moore, Nia, Huryn, Laryssa A, Sergeev, Yuri V, Qian, Haohua, Zeng, Yong, Dong, Lijin, Liu, Pinghu, Lei, Jingqi, Haugen, Carl J, Prasov, Lev, Shi, Ruifang, Dollfus, Hélène, Aristodemou, Petros, Laich, Yannik, Németh, Andrea H, Taylor, John, Downes, Susan, Krawczynski, Maciej R, Meunier, Isabelle, Strassberg, Melissa, Tenney, Jessica, Gao, Josephine, Shear, Matthew A, Moore, Anthony T, Duncan, Jacque L, Menendez, Beatriz, Hull, Sarah, Vincent, Andrea L, Siskind, Carly E, Traboulsi, Elias I, Blackstone, Craig, Sisk, Robert A, Miraldi Utz, Virginia, Webster, Andrew R, Michaelides, Michel, Arno, Gavin, Synofzik, Matthis, Hufnagel, Robert B

“…Biallelic pathogenic variants in the PNPLA6 gene cause a broad spectrum of disorders leading to gait disturbance, visual impairment, anterior hypopituitarism…”
Get full text

Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family by Montenegro, Gladys, Powell, Eric, Huang, Jia, Speziani, Fiorella, Edwards, Yvonne J.K., Beecham, Gary, Hulme, William, Siskind, Carly, Vance, Jeffery, Shy, Michael, Züchner, Stephan

“…Objective: Charcot‐Marie‐Tooth (CMT) disease comprises a large number of genetically distinct forms of inherited peripheral neuropathies. The relative uniform…”
Get full text

Validation of the parent-proxy version of the pediatric Charcot-Marie-Tooth disease quality of life instrument for children aged 0-7 years by Wu, Tong Tong, Finkel, Richard S, Siskind, Carly E, Feely, Shawna M E, Burns, Joshua, Reilly, Mary M, Muntoni, Francesco, Milev, Evelin, Estilow, Timothy, Shy, Michael E, Ramchandren, Sindhu

“…To evaluate the parent-proxy version of the pediatric Charcot Marie Tooth specific quality of life (pCMT-QOL) outcome instrument for children aged 7 or younger…”
Get full text

Perspectives on Spinraza (Nusinersen) Treatment Study: Views of Individuals and Parents of Children Diagnosed with Spinal Muscular Atrophy by Pacione, Michelle, Siskind, Carly E, Day, John W, Tabor, Holly K

“…Spinal muscular atrophy (SMA) is a genetic disorder characterized by muscle loss. In December 2016 the FDA approved the first and only treatment drug for SMA:…”
Get more information

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita by Xue, Shifeng, Maluenda, Jérôme, Marguet, Florent, Shboul, Mohammad, Quevarec, Loïc, Bonnard, Carine, Ng, Alvin Yu Jin, Tohari, Sumanty, Tan, Thong Teck, Kong, Mung Kei, Monaghan, Kristin G., Cho, Megan T., Siskind, Carly E., Sampson, Jacinda B., Rocha, Carolina Tesi, Alkazaleh, Fawaz, Gonzales, Marie, Rigonnot, Luc, Whalen, Sandra, Gut, Marta, Gut, Ivo, Bucourt, Martine, Venkatesh, Byrappa, Laquerrière, Annie, Reversade, Bruno, Melki, Judith

“…Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal…”
Get full text

Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors by Gong, Ping, Fanos, Joanna H., Korty, Lauren, Siskind, Carly E., Hanson-Kahn, Andrea K.

“…Huntington disease (HD) is an autosomal dominant, progressive neurodegenerative disorder for which there is no cure. Predictive testing for HD is available to…”
Get full text

Genetic testing practices for Charcot-Marie-Tooth type 1A disease by Tousignant, Renee, Trepanier, Angela, Shy, Michael E., Siskind, Carly E.

“…ABSTRACT Introduction: Charcot–Marie–Tooth disease type 1A (CMT1A) is caused by a PMP22 gene duplication. CMT1A has a robust electrical phenotype that can be…”
Get full text

Genetics of neuropathies by Siskind, Carly E, Shy, Michael E

“…Charcot-Marie-Tooth disease (CMT) encompasses the heritable motor and sensory neuropathies that comprise most of the inherited peripheral neuropathies. Due to…”
Get more information

“This could be me”: exploring the impact of genetic risk for Huntington’s disease young caregivers by Dondanville, Danielle S., Hanson-Kahn, Andrea K., Kavanaugh, Melinda S., Siskind, Carly E., Fanos, Joanna H.

“…Huntington’s disease (HD) is a predominantly adult-onset, genetic, neurodegenerative condition. Children of affected individuals have a 50% risk of inheriting…”
Get full text

Anterior tibialis cmap amplitude correlations with impairment in CMT1A by Komyathy, Kelsey, Neal, Stephanie, Feely, Shawna, Miller, Lindsey J., Lewis, Richard A., Trigge, George, Siskind, Carly E., Shy, Michael E., Ramchandren, Sindhu

“…Introduction: CMT1A is the most common form of Charcot‐Marie‐Tooth disease (CMT), a slowly progressive neuropathy in which impairment is length dependent…”
Get full text