Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia von Gan-Or, Ziv, Bouslam, Naima, Birouk, Nazha, Lissouba, Alexandra, Chambers, Daniel B., Vérièpe, Julie, Androschuk, Alaura, Laurent, Sandra B., Rochefort, Daniel, Spiegelman, Dan, Dionne-Laporte, Alexandre, Szuto, Anna, Liao, Meijiang, Figlewicz, Denise A., Bouhouche, Ahmed, Benomar, Ali, Yahyaoui, Mohamed, Ouazzani, Reda, Yoon, Grace, Dupré, Nicolas, Suchowersky, Oksana, Bolduc, Francois V., Parker, J. Alex, Dion, Patrick A., Drapeau, Pierre, Rouleau, Guy A., Ouled Amar Bencheikh, Bouchra

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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia von Gan-Or, Ziv, Bouslam, Naima, Birouk, Nazha, Lissouba, Alexandra, Chambers, Daniel B., Vérièpe, Julie, Androschuk, Alaura, Laurent, Sandra B., Rochefort, Daniel, Spiegelman, Dan, Dionne-Laporte, Alexandre, Szuto, Anna, Liao, Meijiang, Figlewicz, Denise A., Bouhouche, Ahmed, Benomar, Ali, Yahyaoui, Mohamed, Ouazzani, Reda, Yoon, Grace, Dupré, Nicolas, Suchowersky, Oksana, Bolduc, Francois V., Parker, J. Alex, Dion, Patrick A., Drapeau, Pierre, Rouleau, Guy A., Ouled Amar Bencheikh, Bouchra

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Glutamate Potentiates the Toxicity of Mutant Cu/Zn-Superoxide Dismutase in Motor Neurons by Postsynaptic Calcium-Dependent Mechanisms von Roy, Josee, Minotti, Sandra, Dong, Lichun, Figlewicz, Denise A, Durham, Heather D

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High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2 von Hilbert, James E, Barohn, Richard J, Clemens, Paula R, Luebbe, Elizabeth A, Martens, William B, McDermott, Michael P, Parkhill, Amy L, Tawil, Rabi, Thornton, Charles A, Moxley, 3rd, Richard T

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II genotype of the angiotensin-converting enzyme gene increases the risk for subarachnoid hemorrhage from ruptured aneurysm von SLOWIK, Agnieszka, BORRATYNSKA, Anna, PERA, Joanna, BETLEJ, Marek, DZIEDZIC, Tomasz, KRZYSZKOWSKI, Tadeusz, CZEPKO, Ryszard, FIGLEWICZ, Denise A, SZCZUDLIK, Andrzej

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The expansions of ALS von Hardiman, Orla, Figlewicz, Denise A

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Epigenetic hypomethylation in FSHD: Itʼs not what you inherit, itʼs whether it shows von Lunt, Peter W, Figlewicz, Denise A

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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 von Hadano, Shinji, Hand, Collette K., Osuga, Hitoshi, Yanagisawa, Yoshiko, Otomo, Asako, Devon, Rebecca S., Miyamoto, Natsuki, Showguchi-Miyata, Junko, Okada, Yoshinori, Singaraja, Roshni, Figlewicz, Denise A., Kwiatkowski, Thomas, Hosler, Betsy A., Sagie, Tally, Skaug, Jennifer, Nasir, Jamal, Brown, Robert H., Scherer, Stephen W., Rouleau, Guy A., Hayden, Michael R., Ikeda, Joh-E

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Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis von Menzies, Fiona M., Cookson, Mark R., Taylor, Robert W., Turnbull, Douglass M., Chrzanowska‐Lightowlers, Zofia M. A., Dong, Lichun, Figlewicz, Denise A., Shaw, Pamela J.

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Up‐Regulation of Protein Chaperones Preserves Viability of Cells Expressing Toxic Cu/Zn‐Superoxide Dismutase Mutants Associated with Amyotrophic Lateral Sclerosis von Bruening, Wendy, Roy, Josée, Giasson, Benoit, Figlewicz, Denise A, Mushynski, Walter E, Durham, Heather D

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Proteasomes remain intact, but show early focal alteration in their composition in a mouse model of amyotrophic lateral sclerosis von Kabashi, Edor, Agar, Jeffrey N, Hong, Yu, Taylor, David M, Minotti, Sandra, Figlewicz, Denise A, Durham, Heather D

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Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress von Winokur, Sara T, Barrett, Kathy, Martin, Jorge H, Forrester, James R, Simon, Mariella, Tawil, Rabi, Chung, Seung-Ah, Masny, Peter S, Figlewicz, Denise A

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Paraoxonase 2 Gene C311S Polymorphism Is Associated with a Risk of Large Vessel Disease Stroke in a Polish Population von Slowik, Agnieszka, Wloch, Dorota, Szermer, Pawel, Wolkow, Pawel, Malecki, Maciej, Pera, Joanna, Turaj, Wojciech, Dziedzic, Tomasz, Klimkowicz-Mrowiec, Aleksandra, Kopec, Grzegorz, Figlewicz, Denise A., Szczudlik, Andrzej

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Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network von Devlin, Bernie, Bennett, Pamela, Dawson, Geraldine, Figlewicz, Denise A., Grigorenko, Elena L., McMahon, William, Minshew, Nancy, Pauls, David, Smith, Moyra, Spence, M. Anne, Rodier, Patricia M., Stodgell, Chris, Schellenberg, Gerard D.

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A2 alelle of GpIIIa gene is a risk factor for stroke caused by large-vessel disease in males von SLOWIK, Agnieszka, DZIEDZIC, Tomasz, TURAJ, Wojciech, PERA, Joanna, GLODZIK-SOBANSKA, Lidia, SZERMER, Pawel, MALECKI, Maciej T, FIGLEWICZ, Denise A, SZCZUDLIK, Andrzej

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Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation von Östlund, Cecilia, Guan, Tinglu, Figlewicz, Denise A., Hays, Arthur P., Worman, Howard J., Gerace, Larry, Schirmer, Eric C.

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Selective loss of neurofilament expression in Cu/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis von Menzies, Fiona M., Grierson, Andrew J., Cookson, Mark R., Heath, Paul R., Tomkins, Janine, Figlewicz, Denise A., Ince, Paul G., Shaw, Pamela J.

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Clinical implications of the genetics of ALS and other motor neuron diseases von ORRELL, Richard W, FIGLEWICZ, Denise A

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Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35 von Hentati, Afif, Bejaoui, Khemissa, Pericak-Vance, Margaret A., Hentati, Faycal, Speer, Marcy C., Hung, Wu-Yen, Figlewicz, Denise A., Haines, Jonathan, Rimmler, Jackie, Ben Hamida, Christiane, Ben Hamida, Mongi, Brown, Robert H., Siddique, Teepu

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If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular... von Hilbert, James E, Kissel, John T, Luebbe, Elizabeth A, Martens, William B, McDermott, Michael P, Sanders, Donald B, Tawil, Rabi, Thornton, Charles A, Moxley, Richard T

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