Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia von Deng, Han-Xiang, Chen, Wenjie, Hong, Seong-Tshool, Boycott, Kym M., Gorrie, George H., Siddique, Nailah, Yang, Yi, Fecto, Faisal, Shi, Yong, Zhai, Hong, Jiang, Hujun, Hirano, Makito, Rampersaud, Evadnie, Jansen, Gerard H., Donkervoort, Sandra, Bigio, Eileen H., Brooks, Benjamin R., Ajroud, Kaouther, Sufit, Robert L., Haines, Jonathan L., Mugnaini, Enrico, Pericak-Vance, Margaret A., Siddique, Teepu

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FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis von Deng, Han-Xiang, Zhai, Hong, Bigio, Eileen H., Yan, Jianhua, Fecto, Faisal, Ajroud, Kaouther, Mishra, Manjari, Ajroud-Driss, Senda, Heller, Scott, Sufit, Robert, Siddique, Nailah, Mugnaini, Enrico, Siddique, Teepu

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Identification of TMEM230 mutations in familial Parkinson's disease von Deng, Han-Xiang, Shi, Yong, Yang, Yi, Ahmeti, Kreshnik B, Miller, Nimrod, Huang, Cao, Cheng, Lijun, Zhai, Hong, Deng, Sheng, Nuytemans, Karen, Corbett, Nicola J, Kim, Myung Jong, Deng, Hao, Tang, Beisha, Yang, Ziquang, Xu, Yanming, Chan, Piu, Huang, Bo, Gao, Xiao-Ping, Song, Zhi, Liu, Zhenhua, Fecto, Faisal, Siddique, Nailah, Foroud, Tatiana, Jankovic, Joseph, Ghetti, Bernardino, Nicholson, Daniel A, Krainc, Dimitri, Melen, Onur, Vance, Jeffery M, Pericak-Vance, Margaret A, Ma, Yong-Chao, Rajput, Ali H, Siddique, Teepu

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Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis von Schüle, Rebecca, Siddique, Teepu, Deng, Han-Xiang, Yang, Yi, Donkervoort, Sandra, Hansson, Magnus, Madrid, Ricardo E., Siddique, Nailah, Schöls, Ludger, Björkhem, Ingemar

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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration von Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, Shaw, Christopher E.

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Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4 von Deng, Han-Xiang, Klein, Christopher J, Yan, Jianhua, Shi, Yong, Wu, Yanhong, Fecto, Faisal, Yau, Hau-Jie, Yang, Yi, Zhai, Hong, Siddique, Nailah, Hedley-Whyte, E Tessa, DeLong, Robert, Martina, Marco, Dyck, Peter J, Siddique, Teepu

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Macular sub-layer thinning and association with pulmonary function tests in Amyotrophic Lateral Sclerosis von Simonett, Joseph M., Huang, Russell, Siddique, Nailah, Farsiu, Sina, Siddique, Teepu, Volpe, Nicholas J., Fawzi, Amani A.

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Inclusions in frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP) and amyotrophic lateral sclerosis (ALS), but not FTLD with FUS proteinopathy (FTLD-FUS), have p... von Bigio, Eileen H., Wu, Jane Y., Deng, Han-Xiang, Bit-Ivan, Esther N., Mao, Qinwen, Ganti, Rakhee, Peterson, Melanie, Siddique, Nailah, Geula, Changiz, Siddique, Teepu, Mesulam, Marsel

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Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy von Ajroud-Driss, Senda, Fecto, Faisal, Ajroud, Kaouther, Lalani, Irfan, Calvo, Sarah E., Mootha, Vamsi K., Deng, Han-Xiang, Siddique, Nailah, Tahmoush, Albert J., Heiman-Patterson, Terry D., Siddique, Teepu

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Study of Intermediate-Length polyQ Repeats in Sporadic and Familial Amyotrophic Lateral Sclerosis (P5.053) von Nunez-Santana, Felix, Yan, Jianhua, Ryan, Eanna, Lowry, Jessica, Siddique, Nailah, Siddique, Teepu

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Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration von Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, Shaw, Christopher E.

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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration von Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D, Abel, Olubunmi, Mayl, Keith, Mehta, Puja R, Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P, Al-Khleifat, Ahmad, Williams, Kelly L, Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A, Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J, Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H, Landers, John E, Glass, Jonathan D, Mora, Jesus S, Robberecht, Wim, Van Damme, Philip, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H, Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P, Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A, Siddique, Teepu, Miller, Timothy, Brown, Robert H, Al-Chalabi, Ammar, Shaw, Christopher E

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Whole Exome Sequencing of Familial ALS and Trios of Sporadic ALS to Identify New Genes Associated with ALS (P5.047) von Ahmeti, Kushtrim, Ahmeti, Kreshnik, Yan, Jianhua, Fecto, Faisal, Siddique, Nailah, Pericak-Vance, Margaret, Deng, Han-Xiang, Siddique, Teepu

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Atypical Electropherogram Patterns are Observed Among C9orf72 (G4C2) Expansion Carriers in a Familial and Sporadic ALS and ALS/FTD North American Cohort Study (P5.056) von Lowry, Jessica, Yan, Jianhua, Feiz, Farnoosh, Yang, Yi, Kinsley, Lisa, Siddique, Nailah, Deng, Han-Xiang, Siddique, Teepu

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Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1 von Ahmeti, Kreshnik B, Ajroud-Driss, Senda, Al-Chalabi, Ammar, Andersen, Peter M, Armstrong, Jennifer, Birve, Anne, Blauw, Hylke M, Brown, Robert H, Bruijn, Lucie, Chen, Wenjie, Chio, Adriano, Comeau, Mary C, Cronin, Simon, Diekstra, Frank P, Soraya Gkazi, Athina, Glass, Jonathan D, Grab, Josh D, Groen, Ewout J, Haines, Jonathan L, Hardiman, Orla, Heller, Scott, Huang, Jie, Hung, Wu-Yen, Jaworski, James M, Jones, Ashley, Khan, Humaira, Landers, John E, Langefeld, Carl D, Leigh, P Nigel, Marion, Miranda C, McLaughlin, Russell L, Meininger, Vincent, Melki, Judith, Miller, Jack W, Mora, Gabriele, Pericak-Vance, Margaret A, Rampersaud, Evadnie, Robberecht, Wim, Russell, Laurie P, Salachas, Francois, Saris, Christiaan G, Shatunov, Aleksey, Shaw, Christopher E, Siddique, Nailah, Siddique, Teepu, Smith, Bradley N, Sufit, Robert, Topp, Simon, Traynor, Bryan J, Vance, Caroline, van Damme, Philip, van den Berg, Leonard H, van Es, Michael A, van Vught, Paul W, Veldink, Jan H, Yang, Yi, Zheng, J G

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Evaluation of Mitochondrial Function in CHCHD10 Mutation (P5.001) von Yan, Jianhua, Ahmeti, Kreshnik, Siddique, Nailah, Ryan, Eanna Barra, Lukas, Thomas John, Deng, Han-Xiang, Kinsley, Lisa M, Yong, Shi, Yang, Yi, Yongchao, Ma, Nimrod, Miller, Corbett, Nicola, Nicholson, Daniel, Siddique, Teepu

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A New Mutation in Ubiquilin Gene Family and Its Effect on Protein Degradation (P02.168) von Yan, Jianhua, Ajroud, Kaouther, Fecto, Faisal, Shi, Yong, Siddique, Nailah, Deng, Han-Xiang, Siddique, Teepu

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Intricacies of aetiology in intrafamilial degenerative disease von Lowry, Jessica L, Ryan, Éanna B, Esengul, Y Taylan, Siddique, Nailah, Siddique, Teepu

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Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort von Pytte, Julia, Flynn, Loren L., Anderton, Ryan S., Mastaglia, Frank L., Theunissen, Frances, James, Ian, Pfaff, Abigail, Koks, Sulev, Saunders, Ann M., Bedlack, Richard, Burns, Daniel K., Lutz, Michael W., Siddique, Nailah, Siddique, Teepu, Roses, Allen D., Akkari, P. Anthony

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Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis von Pytte, Julia, Anderton, Ryan S., Flynn, Loren L., Theunissen, Frances, Jiang, Leanne, Pitout, Ianthe, James, Ian, Mastaglia, Frank L., Saunders, Ann M., Bedlack, Richard, Siddique, Teepu, Siddique, Nailah, Akkari, P. Anthony

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