De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
Lee, Jae-Ran, Srour, Myriam, Kim, Doyoun, Hamdan, Fadi. F., Lim, So-Hee, Brunel-Guitton, Catherine, Décarie, Jean-Claude, Rossignol, Elsa, Mitchell, Grant A., Schreiber, Allison, Moran, Rocio, Van Haren, Keith, Richardson, Randal, Nicolai, Joost, Oberndorff, Karin M.E.J., Wagner, Justin D., Boycott, Kym M., Rahikkala, Elisa, Junna, Nella, Tyynismaa, Henna, Cuppen, Inge, Verbeek, Nienke E., Stumpel, Connie T.R.M., Willemsen, Michel A., de Munnik, Sonja A., Rouleau, Guy A., Kim, Eunjoon, Kamsteeg, Erik-Jan, Kleefstra, Tjitske, Michaud, Jacques L.
Published in Human mutation (01.01.2015)
Published in Human mutation (01.01.2015)
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Journal Article
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
Zambonin, Jessica L, Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B, Frazer, Lee M, Geraghty, Michael T, Harper, Amy D, Jones, Julie R, Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R, Gibbons, Melissa, Collins, Abigail, Fogel, Brent L, Dudding-Byth, Tracy, Boycott, Kym M
Published in Orphanet journal of rare diseases (28.06.2017)
Published in Orphanet journal of rare diseases (28.06.2017)
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Journal Article
Truncating CLCN1 mutations in myotonia congenita: Variable patterns of inheritance
Richardson, Randal C., Tarleton, Jack C., Bird, Thomas D., Gospe Jr, Sidney M.
Published in Muscle & nerve (01.04.2014)
Published in Muscle & nerve (01.04.2014)
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Journal Article
Intrinsic physiological properties of cat retinal ganglion cells
O'Brien, Brendan J., Isayama, Tomoki, Richardson, Randal, Berson, David M.
Published in The Journal of physiology (01.02.2002)
Published in The Journal of physiology (01.02.2002)
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Journal Article
Unilateral myokymia of the tongue after radiation therapy for cervical nodal melanoma
Richardson, Randal C, Weiss, Michael D
Published in Journal of clinical neuromuscular disease (01.03.2009)
Published in Journal of clinical neuromuscular disease (01.03.2009)
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Journal Article
Inhibitory network properties shaping the light evoked responses of cat alpha retinal ganglion cells
O'BRIEN, BRENDAN J., RICHARDSON, RANDAL C., BERSON, DAVID M.
Published in Visual neuroscience (01.07.2003)
Published in Visual neuroscience (01.07.2003)
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Journal Article
Developmental Differences in the Acquisition of Tolerance to Ethanol
Swartzwelder, H.Scott, Richardson, Randal C, Markwiese-Foerch, Barbara, Wilson, W.A, Little, Patrick J
Published in Alcohol (Fayetteville, N.Y.) (01.05.1998)
Published in Alcohol (Fayetteville, N.Y.) (01.05.1998)
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Journal Article
Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study
Acsadi, Gyula, Crawford, Thomas O., Müller‐Felber, Wolfgang, Shieh, Perry B., Richardson, Randal, Natarajan, Niranjana, Castro, Diana, Ramirez‐Schrempp, Daniela, Gambino, Giulia, Sun, Peng, Farwell, Wildon
Published in Muscle & nerve (01.05.2021)
Published in Muscle & nerve (01.05.2021)
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Journal Article
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Castro, Diana, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail, Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Nathalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja K., Urreizti, Roser, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bönnemann, Carsten G., Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, Pandey, Udai Bhan
Published in Nature communications (07.05.2021)
Published in Nature communications (07.05.2021)
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Journal Article
Electrical impedance myography in duchenne muscular dystrophy and healthy controls: A multicenter study of reliability and validity
Zaidman, Craig M., Wang, Lucy L., Connolly, Anne M., Florence, Julaine, Wong, Brenda L., Parsons, Julie A., Apkon, Susan, Goyal, Namita, Williams, Eugene, Escolar, Diana, Rutkove, Seward B., Bohorquez, Jose L.
Published in Muscle & nerve (01.10.2015)
Published in Muscle & nerve (01.10.2015)
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Journal Article
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
Foley, A Reghan, Bolduc, Véronique, Guirguis, Fady, Donkervoort, Sandra, Hu, Ying, Orbach, Rotem, McCarty, Riley M, Sarathy, Apurva, Norato, Gina, Cummings, Beryl B, Lek, Monkol, Sarkozy, Anna, Butterfield, Russell J, Kirschner, Janbernd, Nascimento, Andrés, Benito, Daniel Natera-de, Quijano-Roy, Susana, Stojkovic, Tanya, Merlini, Luciano, Comi, Giacomo, Ryan, Monique, McDonald, Denise, Munot, Pinki, Yoon, Grace, Leung, Edward, Finanger, Erika, Leach, Meganne E, Collins, James, Tian, Cuixia, Mohassel, Payam, Neuhaus, Sarah B, Saade, Dimah, Cocanougher, Benjamin T, Chu, Mary-Lynn, Scavina, Mena, Grosmann, Carla, Richardson, Randal, Kossak, Brian D, Gospe, Jr, Sidney M, Bhise, Vikram, Taurina, Gita, Lace, Baiba, Troncoso, Monica, Shohat, Mordechai, Shalata, Adel, Chan, Sophelia H S, Jokela, Manu, Palmio, Johanna, Haliloğlu, Göknur, Jou, Cristina, Gartioux, Corine, Solomon-Degefa, Herimela, Freiburg, Carolin D, Schiavinato, Alvise, Zhou, Haiyan, Aguti, Sara, Nevo, Yoram, Nishino, Ichizo, Jimenez-Mallebrera, Cecilia, Lamandé, Shireen R, Allamand, Valérie, Gualandi, Francesca, Ferlini, Alessandra, MacArthur, Daniel G, Wilton, Steve D, Wagener, Raimund, Bertini, Enrico, Muntoni, Francesco, Bönnemann, Carsten G
Published in medRxiv : the preprint server for health sciences (29.03.2024)
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Published in medRxiv : the preprint server for health sciences (29.03.2024)
Journal Article
Developmental Changes in Seizure Susceptibility During Ethanol Withdrawal
Acheson, Shawn K, Richardson, Randal, Swartzwelder, H.Scott
Published in Alcohol (Fayetteville, N.Y.) (01.05.1999)
Published in Alcohol (Fayetteville, N.Y.) (01.05.1999)
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Journal Article