Search Results - "Swanson, Lindsay"

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development by Demarest, Scott T., Olson, Heather E., Moss, Angela, Pestana‐Knight, Elia, Zhang, Xiaoming, Parikh, Sumit, Swanson, Lindsay C., Riley, Katherine D., Bazin, Grace A., Angione, Katie, Niestroj, Lisa‐Marie, Lal, Dennis, Juarez‐Colunga, Elizabeth, Benke, Tim A.

“…Objective The cyclin‐dependent kinase like 5 (CDKL5) gene is a known cause of early onset developmental and epileptic encephalopathy, also known as CDKL5…”
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Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review by Olson, Heather E., Demarest, Scott T., Pestana-Knight, Elia M., Swanson, Lindsay C., Iqbal, Sumaiya, Lal, Dennis, Leonard, Helen, Cross, J. Helen, Devinsky, Orrin, Benke, Tim A.

“…Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This unique…”
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SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy by Agrawal, Pankaj B., Pierson, Christopher R., Joshi, Mugdha, Liu, Xiaoli, Ravenscroft, Gianina, Moghadaszadeh, Behzad, Talabere, Tiffany, Viola, Marissa, Swanson, Lindsay C., Haliloğlu, Göknur, Talim, Beril, Yau, Kyle S., Allcock, Richard J.N., Laing, Nigel G., Perrella, Mark A., Beggs, Alan H.

“…Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy,…”
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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy by Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.

“…OBJECTIVE:To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle disorders that often present in…”
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A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study by Beggs, Alan H., Byrne, Barry J., De Chastonay, Sabine, Haselkorn, Tmirah, Hughes, Imelda, James, Emma S., Kuntz, Nancy L., Simon, Jennifer, Swanson, Lindsay C., Yang, Michele L., Yu, Zi‐Fan, Yum, Sabrina W., Prasad, Suyash

“…ABSTRACT Introduction: X‐linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare…”
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Congenital Titinopathy: Comprehensive characterization and pathogenic insights by Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha‐Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho‐Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik‐Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.

“…Objective Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. Methods…”
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Severe speech impairment is a distinguishing feature of FOXP1‐related disorder by Braden, Ruth O, Amor, David J, Fisher, Simon E, Mei, Cristina, Myers, Candace T, Mefford, Heather, Gill, Deepak, Srivastava, Siddharth, Swanson, Lindsay C, Goel, Himanshu, Scheffer, Ingrid E, Morgan, Angela T

“…Aim To delineate the speech and language phenotype of a cohort of individuals with FOXP1‐related disorder. Method We administered a standardized test battery…”
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Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy by Gupta, Vandana A., Ravenscroft, Gianina, Shaheen, Ranad, Todd, Emily J., Swanson, Lindsay C., Shiina, Masaaki, Ogata, Kazuhiro, Hsu, Cynthia, Clarke, Nigel F., Darras, Basil T., Farrar, Michelle A., Hashem, Amal, Manton, Nicholas D., Muntoni, Francesco, North, Kathryn N., Sandaradura, Sarah A., Nishino, Ichizo, Hayashi, Yukiko K., Sewry, Caroline A., Thompson, Elizabeth M., Yau, Kyle S., Brownstein, Catherine A., Yu, Timothy W., Allcock, Richard J.N., Davis, Mark R., Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Alkuraya, Fowzan S., Laing, Nigel G., Beggs, Alan H.

“…Nemaline myopathy (NM) is a rare congenital muscle disorder primarily affecting skeletal muscles that results in neonatal death in severe cases as a result of…”
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Int22h1/Int22h2‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features by Ballout, Rami A., Dickerson, Cheryl, Wick, Myra J., Al‐Sweel, Najla, Openshaw, Amanda S., Srivastava, Siddharth, Swanson, Lindsay C., Bramswig, Nuria C., Kuechler, Alma, Hong, Bo, Fleming, Leah R., Curry, Kathryn, Robertson, Stephen P., Andersen, Erica F., El‐Hattab, Ayman W.

“…Int22h1/Int22h2‐mediated Xq28 duplication syndrome is a relatively new X‐linked intellectual disability syndrome, arising from duplications of the subregion…”
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Multisite Study of Evoked Potentials in Rett Syndrome by Saby, Joni N., Benke, Timothy A., Peters, Sarika U., Standridge, Shannon M., Matsuzaki, Junko, Cutri‐French, Clare, Swanson, Lindsay C., Lieberman, David N., Key, Alexandra P., Percy, Alan K., Neul, Jeffrey L., Nelson, Charles A., Roberts, Timothy P.L., Marsh, Eric D.

“…Objective The aim of the current study was to evaluate the utility of evoked potentials as a biomarker of cortical function in Rett syndrome (RTT). As a number…”
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Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure by Olson, Heather E, Costantini, Julia G, Swanson, Lindsay C, Kaufmann, Walter E, Benke, Timothy A, Fulton, Anne B, Hansen, Ronald, Poduri, Annapurna, Heidary, Gena

“…Aim To characterize the neuro‐ophthalmological phenotype of cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) and assess visual acuity as a…”
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Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies by Haviland, Isabel, Daniels, Carolyn I., Greene, Caitlin A., Drew, Jacqueline, Love-Nichols, Jamie A., Swanson, Lindsay C., Smith, Lacey, Nie, Duyu A., Benke, Timothy, Sheidley, Beth R., Zhang, Bo, Poduri, Annapurna, Olson, Heather E.

“…Evidence of the impact of genetic diagnosis on medical management in individuals with previously unexplained epilepsy is lacking in the literature. Our goal…”
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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy by Yuen, Michaela, Sandaradura, Sarah A, Dowling, James J, Kostyukova, Alla S, Moroz, Natalia, Quinlan, Kate G, Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J, Ceyhan-Birsoy, Ozge, Gokhin, David S, Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T, Novak, Stefanie M, D'Amico, Adele, Malfatti, Edoardo, Thomas, Brett P, Gabriel, Stacey B, Gupta, Namrata, Daly, Mark J, Ilkovski, Biljana, Houweling, Peter J, Davidson, Ann E, Swanson, Lindsay C, Brownstein, Catherine A, Gupta, Vandana A, Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P, Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B, Sloboda, Darcée D, Bertini, Enrico, Chitayat, David, Telfer, William R, Laquerrière, Annie, Gregorio, Carol C, Ottenheijm, Coen A C, Bönnemann, Carsten G, Pelin, Katarina, Beggs, Alan H, Hayashi, Yukiko K, Romero, Norma B, Laing, Nigel G, Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M, MacArthur, Daniel G, North, Kathryn N, Clarke, Nigel F

“…Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction and electron-dense protein accumulations (nemaline bodies) in…”
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Comparison of evoked potentials across four related developmental encephalopathies by Saby, Joni N, Peters, Sarika U, Benke, Timothy A, Standridge, Shannon M, Swanson, Lindsay C, Lieberman, David N, Olson, Heather E, Key, Alexandra P, Percy, Alan K, Neul, Jeffrey L, Nelson, Charles A, Roberts, Timothy P L, Marsh, Eric D

“…Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome…”
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Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder by Olson, Heather E, Daniels, Carolyn I, Haviland, Isabel, Swanson, Lindsay C, Greene, Caitlin A, Denny, Anne Marie M, Demarest, Scott T, Pestana-Knight, Elia, Zhang, Xiaoming, Moosa, Ahsan N, Fidell, Andrea, Weisenberg, Judith L, Suter, Bernhard, Fu, Cary, Neul, Jeffrey L, Percy, Alan K, Marsh, Eric D, Benke, Timothy A, Poduri, Annapurna

“…CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep,…”
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Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder by Haviland, Isabel, Hector, Ralph D, Swanson, Lindsay C, Verran, Aubrie Soucy, Sherrill, Emma, Frazier, Zoë, Denny, AnneMarie M, Lucash, Jenna, Zhang, Bo, Dubbs, Holly A, Marsh, Eric D, Weisenberg, Judith L, Leonard, Helen, Crippa, Milena, Cogliati, Francesca, Russo, Silvia, Suter, Bernhard, Rajaraman, Rajsekar, Percy, Alan K, Schreiber, John M, Demarest, Scott, Benke, Timothy A, Chopra, Maya, Yu, Timothy W, Olson, Heather E

“…Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and…”
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Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome by Shovlin, Stephen, Delepine, Chloe, Swanson, Lindsay, Bach, Snow, Sahin, Mustafa, Sur, Mriganka, Kaufmann, Walter E, Tropea, Daniela

“…Rett syndrome (RTT) is a devastating neurodevelopmental disorder without effective treatments. Attempts at developing targetted therapies have been relatively…”
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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain by Keehan, Laura, Haviland, Isabel, Gofin, Yoel, Swanson, Lindsay C., El Achkar, Christelle Moufawad, Schreiber, John, VanNoy, Grace E., O'Heir, Emily, O'Donnell‐Luria, Anne, Lewis, Richard Alan, Magoulas, Pilar, Tran, Alyssa, Azamian, Mahshid S., Chao, Hsiao‐Tuan, Pham, Lisa, Samaco, Rodney C., Elsea, Sarah, Thorpe, Erin, Kesari, Akanchha, Perry, Denise, Lee, Brendan, Lalani, Seema R., Rosenfeld, Jill A., Olson, Heather E., Burrage, Lindsay C.

“…Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is caused by heterozygous or hemizygous variants in CDKL5 and is characterized by refractory…”
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Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD) by Chen, Pin-Fang, Chen, Teresa, Forman, Taylor E., Swanson, Amanda C., O'Kelly, Benjamin, Dwyer, Sean A., Buttermore, Elizabeth D., Kleiman, Robin, JS Carrington, Sheridan, Lavery, Daniel J., Swanson, Lindsay C., Olson, Heather E., Sahin, Mustafa

“…CDKL5 Deficiency Disorder (CDD) is a rare X-linked monogenic developmental encephalopathy that is estimated to affect 1:42,000 live births. CDD is caused by…”
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Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder by Srivastava, Siddharth, Macke, Erica L, Swanson, Lindsay C, Coulter, David, Klee, Eric W, Mullegama, Sureni V, Xie, Yili, Lanpher, Brendan C, Bedoukian, Emma C, Skraban, Cara M, Villard, Laurent, Milh, Mathieu, Leppert, Mary L O, Cohen, Julie S

“…In humans, de novo truncating variants in (Wiskott-Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound…”
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