Paraneoplastic Neurological Syndromes and Glutamic Acid Decarboxylase Antibodies von Ariño, Helena, Höftberger, Romana, Gresa-Arribas, Nuria, Martínez-Hernández, Eugenia, Armangue, Thaís, Kruer, Michael C, Arpa, Javier, Domingo, Julio, Rojc, Bojan, Bataller, Luis, Saiz, Albert, Dalmau, Josep, Graus, Francesc

Volltext

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy von MacLennan, Alastair H., Lewis, Sara, Moreno-De-Luca, Andres, Fahey, Michael, Leventer, Richard J., McIntyre, Sarah, Ben-Pazi, Hilla, Corbett, Mark, Wang, Xiaoyang, Baynam, Gareth, Fehlings, Darcy, Kurian, Manju A., Zhu, Changlian, Himmelmann, Kate, Smithers-Sheedy, Hayley, Wilson, Yana, Ocaña, Carlos Santos, van Eyk, Clare, Badawi, Nadia, Wintle, Richard F., Jacobsson, Bo, Amor, David J., Mallard, Carina, Pérez-Jurado, Luis A., Hallman, Mikko, Rosenbaum, Peter J., Kruer, Michael C., Gecz, Jozef

Volltext

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias von Helbig, Katherine L., Lauerer, Robert J., Bahr, Jacqueline C., Souza, Ivana A., Uysal, Betül, Gandini, Maria A., Huang, Sun, Keren, Boris, Mignot, Cyril, Billette de Villemeur, Thierry, Nava, Caroline, Valence, Stéphanie, Buratti, Julien, Fagerberg, Christina R., Soerensen, Kristina P., Kamsteeg, Erik-Jan, Koolen, David A., Gunning, Boudewijn, Schelhaas, H. Jurgen, Fox, Jordana, Bakhtiari, Somayeh, Jarrar, Randa, Lindstrom, Kristin, Jin, Sheng Chih, Zeng, Xue, Bilguvar, Kaya, Papavasileiou, Antigone, Xing, Qinghe, Zhu, Changlian, Boysen, Katja, Vairo, Filippo, Klee, Eric W., Tillema, Jan-Mendelt, Payne, Eric T., Cousin, Margot A., Kruisselbrink, Teresa M., Wick, Myra J., Baker, Joshua, Smith, Nicholas, Angrist, Misha, Ashley, Patricia, Bidegain, Margarita, Chambers, Eileen, Cope, Heidi, Cotten, C. Michael, Curington, Theresa, Davis, Erica E., Fisher, Kimberley, French, Amanda, Gallentine, William, Hill, Kevin, Kansagra, Sujay, Katsanis, Sara, Kurtzberg, Joanne, Marcus, Jeffrey, McDonald, Marie, Mikati, Mohammed, Miller, Stephen, Murtha, Amy, Perilla, Yezmin, Pizoli, Carolyn, Ross, Sherry, Sadeghpour, Azita, Smith, Edward, Wiener, John, Corbett, Mark A., Goldmann, Eva, Kichula, Elizabeth, Segal, Eric, Jackson, Kelly E., Asamoah, Alexander, McCarrier, Julie, Botto, Lorenzo D., Tvrdik, Tatiana, Cascino, Gregory D., Klingerman, Sherry, Neumann, Catherine, Nolan, Melinda A., Snell, Russell G., Lehnert, Klaus, Sadleir, Lynette G., Kvarnung, Malin, Guerrini, Renzo, Friez, Michael J., Lyons, Michael J., Leonhard, Jennifer, Kringlen, Gabriel, El Achkar, Christelle M., Smith, Lacey A., Carss, Keren J., Rankin, Julia, Zeman, Adam, Blyth, Moira, Kerr, Bronwyn, Ruiz, Karla, Urquhart, Jill, Banka, Siddharth, Scheffer, Ingrid E., Zamponi, Gerald W., Mefford, Heather C.

Volltext

Identification of critical regions for clinical features of distal 10q deletion syndrome von Yatsenko, SA, Kruer, MC, Bader, PI, Corzo, D, Schuette, J, Keegan, CE, Nowakowska, B, Peacock, S, Cai, WW, Peiffer, DA, Gunderson, KL, Ou, Z, Chinault, AC, Cheung, SW

Volltext

Cerebral palsy and genomics: an international consortium von MacLennan, Alastair H, Kruer, Michael C, Baynam, Gareth, Moreno‐De‐Luca, Andres, Wilson, Yana A, Zhu, Changlian, Wintle, Richard F, Gecz, Jozef

Volltext

Insulin inhibition of the proteasome is dependent on degradation of insulin by insulin-degrading enzyme von Bennett, RG, Fawcett, J, Kruer, MC, Duckworth, WC, Hamel, FG

Volltext

P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants von Gauquelin, L, Cayami, FK, Sztriha, L, Yoon, G, Tran, LT, Guerrero, K, Hocke, F, van Spaendonk, RM, Fung, EL, D’Arrigo, S, Vasco, G, Thiffault, I, Niyazov, DM, Person, R, Lewis, KS, Wassmer, E, Prescott, T, Fallon, P, McEntagart, M, Rankin, J, Webster, R, Philippi, H, van de Warrenburg, B, Timmann, D, Dixit, A, Searle, C, Thakur, N, Kruer, MC, Sharma, S, Vanderver, A, Tonduti, D, van der Knaap, MS, Bertini, E, Goizet, C, Fribourg, S, Wolf, NI, Bernard, G

Volltext

Identification of disease causing loci using an array-based genotyping approach on pooled DNA von Craig, David W, Huentelman, Matthew J, Hu-Lince, Diane, Zismann, Victoria L, Kruer, Michael C, Lee, Anne M, Puffenberger, Erik G, Pearson, John M, Stephan, Dietrich A

Volltext

The role of evidence-based medicine and clinical trials in rare genetic disorders von Kruer, MC, Steiner, RD

Volltext

Reduced action of insulin glargine on protein and lipid metabolism: Possible relationship to cellular hormone metabolism von Fawcett, Janet, Tsui, Brian T, Kruer, Michael C, Duckworth, William C

Volltext

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders von Langhammer, F, Maroofian, R, Badar, R, Gregor, A, Rochman, M, Ratliff, JB, Koopmans, M, Herget, T, Hempel, M, Kortüm, F, Heron, D, Mignot, C, Keren, B, Brooks, S, Botti, C, Ben-Zeev, B, Argilli, E, Sherr, EH, Gowda, VK, Srinivasan, VM, Bakhtiari, S, Kruer, MC, Salih, MA, Kuechler, A, Muller, EA, Blocker, K, Kuismin, O, Park, KL, Kochhar, A, Brown, K, Ramanathan, S, Clark, RD, Elgizouli, M, Melikishvili, G, Tabatadze, N, Stark, Z, Mirzaa, GM, Ong, J, Grasshoff, U, Bevot, A, von Wintzingerode, L, Jamra, RA, Hennig, Y, Goldenberg, P, Al Alam, C, Charif, M, Boulouiz, R, Bellaoui, M, Amrani, R, Al Mutairi, F, Tamim, AM, Abdulwahab, F, Alkuraya, FS, Khouj, EM, Alvi, JR, Sultan, T, Hashemi, N, Karimiani, EG, Ashrafzadeh, F, Imannezhad, S, Efthymiou, S, Houlden, H, Sticht, H, Zweier, C

Volltext bestellen

Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement von Zech, M, Kumar, KR, Reining, S, Reunert, J, Tchan, M, Riley, LG, Drew, AP, Adam, RJ, Berutti, R, Biskup, S, Derive, N, Bakhtiari, S, Jin, SC, Kruer, MC, Bardakjian, T, Gonzalez-Alegre, P, Keller Sarmiento, IJ, Mencacci, NE, Lubbe, SJ, Kurian, MA, Clot, F, Méneret, A, de Sainte Agathe, J-M, Fung, VSC, Vidailhet, M, Baumann, M, Marquardt, T, Winkelmann, J, Boesch, S

Volltext bestellen

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss von Richard, EM, Marsh, APL, Kaiyrzhanov, R, Wagner, M, Shetty, S, Pagnozzi, A, Nordlie, SM, Guida, BS, Cornejo, P, Magee, H, Liu, J, Norton, BY, Worgan, L, Hakonarson, H, Li, J, Jain, M, Blesson, A, Rodan, LH, Abbott, M-A, Cohen, JS, Alhaddad, B, Meitinger, T, Lenz, D, Ziegler, A, Kotzaeridou, U, Brunet, T, Chassevent, A, Smith-Hicks, C, Ekstein, J, Weiden, T, Hahn, A, Zharkinbekova, N, Turnpenny, P, Tucci, A, Yelton, M, Horvath, R, Gungor, S, Hiz, S, Oktay, Y, Lochmuller, H, Zollino, M, Manuela, M, Marangi, G, Nigro, V, Torella, A, Pinelli, M, Amenta, S, Husain, RA, Grossmann, B, Rapp, M, Steen, C, Marquardt, I, Grimmel, M, Grasshoff, U, Korenke, GC, Owczarek-Lipska, M, Neidhardt, J, Radio, FC, Mancini, C, Sepulveda, DJC, Mc Walter, K, Begtrup, A, Crunk, A, Sacoto, MJG, Person, R, Schnur, RE, Mancardi, MM, Kreuder, F, Striano, P, Zara, F, Chung, WK, Marks, WA, van Eyk, CL, Webber, DL, Corbett, MA, Harper, K, Berry, JG, Mac Lennan, AH, Gecz, J, Tartaglia, M, Salpietro, V, Christodoulou, J, Kaslin, J, Bilguvar, K, Munchau, A, Ahmed, ZM, Hufnagel, RB, Fahey, MC, Maroofian, R, Houlden, H, Sticht, H, Mane, SM, LRad, A, Vona, B, Jin, SC, Haack, TB, Makowski, C, Hirsch, Y, Riazuddin, S, Kruer, MC

Volltext bestellen

Loss of Frrs1l disrupts synaptic AMPA receptor function, and results in neurodevelopmental, motor, cognitive and electrographical abnormalities von Stewart, M, Lau, P, Banks, G, Bains, RS, Castroflorio, E, Oliver, PL, Dixon, CL, Kruer, MC, Kullmann, DM, Acevedo-Arozena, A, Wells, SE, Corrochano, S, Nolan, PM

Volltext bestellen

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy von Jin, SC, Lewis, SA, Bakhtiari, S, Zeng, X, Sierant, MC, Shetty, S, Nordlie, SM, Elie, A, Corbett, MA, Norton, BY, van Eyk, CL, Haider, S, Guida, BS, Magee, H, Liu, J, Pastore, S, Vincent, JB, Brunstrom-Hernandez, J, Papavasileiou, A, Fahey, MC, Berry, JG, Harper, K, Zhou, C, Zhang, J, Li, B, Heim, J, Webber, DL, Frank, MSB, Xia, L, Xu, Y, Zhu, D, Zhang, B, Sheth, AH, Knight, JR, Castaldi, C, Tikhonova, IR, López-Giráldez, F, Keren, B, Whalen, S, Buratti, J, Doummar, D, Cho, M, Retterer, K, Millan, F, Wang, Y, Waugh, JL, Rodan, L, Cohen, JS, Fatemi, A, Lin, AE, Phillips, JP, Feyma, T, MacLennan, SC, Vaughan, S, Crompton, KE, Reid, SM, Reddihough, DS, Shang, Q, Gao, C, Novak, I, Badawi, N, Wilson, YA, McIntyre, SJ, Mane, SM, Wang, X, Amor, DJ, Zarnescu, DC, Lu, Q, Xing, Q, Zhu, C, Bilguvar, K, Padilla-Lopez, S, Lifton, RP, Gecz, J, MacLennan, AH, Kruer, MC

Volltext bestellen

Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus von Wagner, M, Levy, J, Jung-Klawitter, S, Bakhtiari, S, Monteiro, F, Maroofian, R, Bierhals, T, Hempel, M, Elmaleh-Berges, M, Kitajima, JP, Kim, CA, Salomao, JG, Amor, DJ, Cooper, MS, Perrin, L, Pipiras, E, Neu, A, Doosti, M, Karimiani, EG, Toosi, MB, Houlden, H, Jin, SC, Si, YC, Rodan, LH, Venselaar, H, Kruer, MC, Kok, F, Hoffmann, GF, Strom, TM, Wortmann, SB, Tabet, A-C, Opladen, T

Volltext bestellen

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia von Wiessner, M, Maroofian, R, Ni, M-Y, Pedroni, A, Müller, JS, Beetz, C, Santorelli, FM, Alfares, AA, Zhu, C, Alehabib, E, Bakhtiari, S, Janecke, AR, Otero, MG, Chen, JYH, Peterson, JT, Strom, TM, De Jonghe, P, Deconinck, T, De Ridder, W, De Winter, J, Ricca, I, Alfadhel, M, van de Warrenburg, BP, Portier, R, Bergmann, C, Ghasemi Firouzabadi, S, Jin, SC, Bilguvar, K, Hamed, S, Abdelhameed, M, Maqbool, S, Rahman, F, Anwar, N, Carmichael, J, Pagnamenta, A, Wood, NW, Tran Mau-Them, F, Haack, T, Genomics England Research Consortium, PREPARE network, Di Rocco, M, Ceccherini, I, Iacomino, M, Zara, F, Salpietro, V, Scala, M, Rusmini, M, Xu, Y, Wang, Y, Suzuki, Y, Koh, K, Nan, H, Ishiura, H, Tsuji, S, Lambert, L, Schmitt, E, Lacaze, E, Küpper, H, Dredge, D, Skraban, C, Goldstein, A, Willis, MJH, Grand, K, Graham, JM, Lewis, RA, Millan, F, Duman, Ö, Dündar, N, Uyanik, G, Schöls, L, Nürnberg, P, Nürnberg, G, Seeman, P, Kuchar, M, Darvish, H, Rebelo, A, Bouçanova, F, Medard, J-J, Chrast, R, Auer-Grumbach, M, Alkuraya, FS, Shamseldin, H, Al Tala, S, Rezazadeh Varaghchi, J, Najafi, M, Deschner, S, Gläser, D, Hüttel, W, Kruer, MC, Takiyama, Y, Züchner, S, Baets, J, Synofzik, M, Schüle, R, Horvath, R, Houlden, H, Bartesaghi, L, Lee, H-J, Ampatzis, K, Pierson, TM, Senderek, J

Volltext bestellen

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination von Chelban, V, Alsagob, M, Kloth, K, Chirita-Emandi, A, Vandrovcova, J, Maroofian, R, Davagnanam, I, Bakhtiari, S, AlSayed, MD, Rahbeeni, Z, AlZaidan, H, Malintan, NT, Johannsen, J, Efthymiou, S, Ghayoor Karimiani, E, Mankad, K, Al-Shahrani, SA, Beiraghi Toosi, M, AlShammari, M, Groppa, S, Haridy, NA, AlQuait, L, Qari, A, Huma, R, Salih, MA, Almass, R, Almutairi, FB, Hamad, MH, Alorainy, IA, Ramzan, K, Imtiaz, F, Puiu, M, Kruer, MC, Bierhals, T, Wood, NW, Colak, D, Houlden, H, Kaya, N

Volltext bestellen

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy von MacLennan, AH, Lewis, S, Moreno-De-Luca, A, Fahey, M, Leventer, RJ, McIntyre, S, Ben-Pazi, H, Corbett, M, Wang, X, Baynam, G, Fehlings, D, Kurian, MA, Zhu, C, Himmelmann, K, Smithers-Sheedy, H, Wilson, Y, Ocaña, CS, van Eyk, C, Badawi, N, Wintle, RF, Jacobsson, B, Amor, DJ, Mallard, C, Pérez-Jurado, LA, Hallman, M, Rosenbaum, PJ, Kruer, MC, Gecz, J

Volltext bestellen

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society von Parikh, S, Goldstein, A, Karaa, A, Koenig, MK, Anselm, I, Brunel-Guitton, C, Christodoulou, J, Cohen, BH, Dimmock, D, Enns, GM, Falk, MJ, Feigenbaum, A, Frye, RE, Ganesh, J, Griesemer, D, Haas, R, Horvath, R, Korson, M, Kruer, MC, Mancuso, M, McCormack, S, Raboisson, MJ, Reimschisel, T, Salvarinova, R, Saneto, RP, Scaglia, F, Shoffner, J, Stacpoole, PW, Sue, CM, Tarnopolsky, M, Van Karnebeek, C, Wolfe, LA, Cunningham, ZZ, Rahman, S, Chinnery, PF

Volltext bestellen