A
Abu-Libdeh, Bassam
- Open AccessDeleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilitiesFadi Alkufri, Avraham Shaag, Bassam Abu-Libdeh, Orly Elpeleg
Adler, Charles
- Open AccessNext-generation profiling to identify the molecular etiology of Parkinson dementiaAdrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, Lori Cuyugan, Winnie S. Liang, Matthew Huentelman, Charles Adler, Erika Driver-Dunckley, Thomas G. Beach, Travis L. Dunckley
Agarwal, Pinky
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Alkufri, Fadi
- Open AccessDeleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilitiesFadi Alkufri, Avraham Shaag, Bassam Abu-Libdeh, Orly Elpeleg
Alonso, Isabel
- Open AccessGenomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PDSara Morais, Rita Bastos-Ferreira, Jorge Sequeiros, Isabel Alonso
Auriacombe, Sophie
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Azizi, Esther
- Open AccessParkinson disease (PARK) genes are somatically mutated in cutaneous melanomaRivka Inzelberg, Yardena Samuels, Esther Azizi, Nouar Qutob, Lilah Inzelberg, Eytan Domany, Edna Schechtman, Eitan Friedman
B
Barbano, Richard L.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Bastos-Ferreira, Rita
- Open AccessGenomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PDSara Morais, Rita Bastos-Ferreira, Jorge Sequeiros, Isabel Alonso
Beach, Thomas G.
- Open AccessNext-generation profiling to identify the molecular etiology of Parkinson dementiaAdrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, Lori Cuyugan, Winnie S. Liang, Matthew Huentelman, Charles Adler, Erika Driver-Dunckley, Thomas G. Beach, Travis L. Dunckley
Beecham, Gary W.
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Belliard, Serge
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Berman, Brian D.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Biancheri, Roberta
- Open AccessWhite matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
Bras, Jose
- Open AccessMutation of TBCK causes a rare recessive developmental disorderRita J. Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras, Sara E. Mole
Brice, Alexis
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Brown, Rachel
- Open AccessMutation of TBCK causes a rare recessive developmental disorderRita J. Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras, Sara E. Mole
Burn, Sabrina C.
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Byrd, Goldie S.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
C
Callaghan, Brian C.
- Open AccessScreening for novel hexanucleotide repeat expansions at ALS- and FTD-associated lociFang He, Julie M. Jones, Claudia Figueroa-Romero, Dapeng Zhang, Eva L. Feldman, Stephen A. Goutman, Miriam H. Meisler, Brian C. Callaghan, Peter K. Todd
Camuzat, Agnès
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Carney, Regina M.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Caroppo, Paola
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Cervasio, Mariarosaria
- Open AccessWhite matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
Chouinard, Sylvain
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Clot, Fabienne
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Comella, Cynthia L.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Corneveaux, Jason J.
- Open AccessNext-generation profiling to identify the molecular etiology of Parkinson dementiaAdrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, Lori Cuyugan, Winnie S. Liang, Matthew Huentelman, Charles Adler, Erika Driver-Dunckley, Thomas G. Beach, Travis L. Dunckley
Couratier, Philippe
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Crotwell, Patricia L.
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Cuccaro, Michael L.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Cukier, Holly N.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Cuyugan, Lori
- Open AccessNext-generation profiling to identify the molecular etiology of Parkinson dementiaAdrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, Lori Cuyugan, Winnie S. Liang, Matthew Huentelman, Charles Adler, Erika Driver-Dunckley, Thomas G. Beach, Travis L. Dunckley
D
De Both, Matthew
- Open AccessNext-generation profiling to identify the molecular etiology of Parkinson dementiaAdrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, Lori Cuyugan, Winnie S. Liang, Matthew Huentelman, Charles Adler, Erika Driver-Dunckley, Thomas G. Beach, Travis L. Dunckley
de Goede, Christian
- Open AccessMutation of TBCK causes a rare recessive developmental disorderRita J. Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras, Sara E. Mole
Del Basso De Caro, Marialaura
- Open AccessWhite matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
Del Sette, Massimo
- Open AccessWhite matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
Dian, Donnai
- Open AccessMutation of TBCK causes a rare recessive developmental disorderRita J. Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras, Sara E. Mole
Domany, Eytan
- Open AccessParkinson disease (PARK) genes are somatically mutated in cutaneous melanomaRivka Inzelberg, Yardena Samuels, Esther Azizi, Nouar Qutob, Lilah Inzelberg, Eytan Domany, Edna Schechtman, Eitan Friedman
Dombroski, Beth A.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Driver-Dunckley, Erika
- Open AccessNext-generation profiling to identify the molecular etiology of Parkinson dementiaAdrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, Lori Cuyugan, Winnie S. Liang, Matthew Huentelman, Charles Adler, Erika Driver-Dunckley, Thomas G. Beach, Travis L. Dunckley
Dubois, Bruno
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Dunckley, Travis L.
- Open AccessNext-generation profiling to identify the molecular etiology of Parkinson dementiaAdrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, Lori Cuyugan, Winnie S. Liang, Matthew Huentelman, Charles Adler, Erika Driver-Dunckley, Thomas G. Beach, Travis L. Dunckley
Dursun, Ali
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Dykxhoorn, Derek M.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
E
Elpeleg, Orly
- Open AccessDeleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilitiesFadi Alkufri, Avraham Shaag, Bassam Abu-Libdeh, Orly Elpeleg
Evatt, Marian L.
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
F
Fang, Mingyan
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Farrer, Lindsay A.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Feldman, Eva L.
- Open AccessScreening for novel hexanucleotide repeat expansions at ALS- and FTD-associated lociFang He, Julie M. Jones, Claudia Figueroa-Romero, Dapeng Zhang, Eva L. Feldman, Stephen A. Goutman, Miriam H. Meisler, Brian C. Callaghan, Peter K. Todd
Figueroa-Romero, Claudia
- Open AccessScreening for novel hexanucleotide repeat expansions at ALS- and FTD-associated lociFang He, Julie M. Jones, Claudia Figueroa-Romero, Dapeng Zhang, Eva L. Feldman, Stephen A. Goutman, Miriam H. Meisler, Brian C. Callaghan, Peter K. Todd
Friedman, Eitan
- Open AccessParkinson disease (PARK) genes are somatically mutated in cutaneous melanomaRivka Inzelberg, Yardena Samuels, Esther Azizi, Nouar Qutob, Lilah Inzelberg, Eytan Domany, Edna Schechtman, Eitan Friedman
G
Geng, Chunyu
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Gilbert, John R.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Golfier, Véronique
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Goutman, Stephen A.
- Open AccessScreening for novel hexanucleotide repeat expansions at ALS- and FTD-associated lociFang He, Julie M. Jones, Claudia Figueroa-Romero, Dapeng Zhang, Eva L. Feldman, Stephen A. Goutman, Miriam H. Meisler, Brian C. Callaghan, Peter K. Todd
Guerreiro, Rita J.
- Open AccessMutation of TBCK causes a rare recessive developmental disorderRita J. Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras, Sara E. Mole
Guillot-Noel, Léna
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Guo, Yuh-Cherng
- Open AccessSpinocerebellar ataxia type 36 in the Han ChineseYi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Guan-Ting Liu, Yi-Chu Liao, Bing-Wen Soong
H
Haines, Jonathan L.
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Hamilton-Nelson, Kara L.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
He, Fang
- Open AccessScreening for novel hexanucleotide repeat expansions at ALS- and FTD-associated lociFang He, Julie M. Jones, Claudia Figueroa-Romero, Dapeng Zhang, Eva L. Feldman, Stephen A. Goutman, Miriam H. Meisler, Brian C. Callaghan, Peter K. Todd
Hedera, Peter
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Henderson-Smith, Adrienne
- Open AccessNext-generation profiling to identify the molecular etiology of Parkinson dementiaAdrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, Lori Cuyugan, Winnie S. Liang, Matthew Huentelman, Charles Adler, Erika Driver-Dunckley, Thomas G. Beach, Travis L. Dunckley
Hsiao, Cheng-Tsung
- Open AccessSpinocerebellar ataxia type 36 in the Han ChineseYi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Guan-Ting Liu, Yi-Chu Liao, Bing-Wen Soong
Huentelman, Matthew
- Open AccessNext-generation profiling to identify the molecular etiology of Parkinson dementiaAdrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, Lori Cuyugan, Winnie S. Liang, Matthew Huentelman, Charles Adler, Erika Driver-Dunckley, Thomas G. Beach, Travis L. Dunckley
I
Iacomino, Michele
- Open AccessWhite matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
Inzelberg, Lilah
- Open AccessParkinson disease (PARK) genes are somatically mutated in cutaneous melanomaRivka Inzelberg, Yardena Samuels, Esther Azizi, Nouar Qutob, Lilah Inzelberg, Eytan Domany, Edna Schechtman, Eitan Friedman
Inzelberg, Rivka
- Open AccessParkinson disease (PARK) genes are somatically mutated in cutaneous melanomaRivka Inzelberg, Yardena Samuels, Esther Azizi, Nouar Qutob, Lilah Inzelberg, Eytan Domany, Edna Schechtman, Eitan Friedman
J
Jankovic, Joseph
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Jiang, Hui
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Jinnah, H.A.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Jones, Julie M.
- Open AccessScreening for novel hexanucleotide repeat expansions at ALS- and FTD-associated lociFang He, Julie M. Jones, Claudia Figueroa-Romero, Dapeng Zhang, Eva L. Feldman, Stephen A. Goutman, Miriam H. Meisler, Brian C. Callaghan, Peter K. Todd
Junker, Johanna
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
K
Kohli, Martin A.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Kruer, Michael C.
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Kunkle, Brian W.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
L
Lang, Rosalyn
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Lattante, Serena
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Laurent, Bernard
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Le Ber, Isabelle
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
LeDoux, Mark S.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Lee, Yi-Chung
- Open AccessSpinocerebellar ataxia type 36 in the Han ChineseYi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Guan-Ting Liu, Yi-Chu Liao, Bing-Wen Soong
Li, Hong-Fu
- Open AccessFTL mutation in a Chinese pedigree with neuroferritinopathyWang Ni, Hong-Fu Li, Yi-Cen Zheng, Zhi-Ying Wu
Liang, Winnie S.
- Open AccessNext-generation profiling to identify the molecular etiology of Parkinson dementiaAdrienne Henderson-Smith, Jason J. Corneveaux, Matthew De Both, Lori Cuyugan, Winnie S. Liang, Matthew Huentelman, Charles Adler, Erika Driver-Dunckley, Thomas G. Beach, Travis L. Dunckley
Liao, Yi-Chu
- Open AccessSpinocerebellar ataxia type 36 in the Han ChineseYi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Guan-Ting Liu, Yi-Chu Liao, Bing-Wen Soong
Liu, Guan-Ting
- Open AccessSpinocerebellar ataxia type 36 in the Han ChineseYi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Guan-Ting Liu, Yi-Chu Liao, Bing-Wen Soong
M
Maldonado, Lizmarie
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
Martemyanov, Kirill A.
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Martin, Eden R.
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Masuho, Ikuo
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Mayeux, Richard
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Meisler, Miriam H.
- Open AccessScreening for novel hexanucleotide repeat expansions at ALS- and FTD-associated lociFang He, Julie M. Jones, Claudia Figueroa-Romero, Dapeng Zhang, Eva L. Feldman, Stephen A. Goutman, Miriam H. Meisler, Brian C. Callaghan, Peter K. Todd
Millecamps, Stéphanie
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Minetti, Carlo
- Open AccessWhite matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
Mole, Sara E.
- Open AccessMutation of TBCK causes a rare recessive developmental disorderRita J. Guerreiro, Rachel Brown, Donnai Dian, Christian de Goede, Jose Bras, Sara E. Mole
Morais, Sara
- Open AccessGenomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PDSara Morais, Rita Bastos-Ferreira, Jorge Sequeiros, Isabel Alonso
Myers, Angela
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
N
Ni, Wang
- Open AccessFTL mutation in a Chinese pedigree with neuroferritinopathyWang Ni, Hong-Fu Li, Yi-Cen Zheng, Zhi-Ying Wu
O
Özgul, Riza Köksal
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
P
Padilla-Lopez, Sergio
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Payami, Haydeh
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
Pericak-Vance, Margaret A.
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Perlmutter, Joel S.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Q
Qutob, Nouar
- Open AccessParkinson disease (PARK) genes are somatically mutated in cutaneous melanomaRivka Inzelberg, Yardena Samuels, Esther Azizi, Nouar Qutob, Lilah Inzelberg, Eytan Domany, Edna Schechtman, Eitan Friedman
R
Reich, Stephen G.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Ritchie, James C.
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
Robbiano, Angela
- Open AccessWhite matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
Rodriguez, Ramon L.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Rolati, Sophie
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Rosen, Ami R.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
S
Samuels, Yardena
- Open AccessParkinson disease (PARK) genes are somatically mutated in cutaneous melanomaRivka Inzelberg, Yardena Samuels, Esther Azizi, Nouar Qutob, Lilah Inzelberg, Eytan Domany, Edna Schechtman, Eitan Friedman
Schechtman, Edna
- Open AccessParkinson disease (PARK) genes are somatically mutated in cutaneous melanomaRivka Inzelberg, Yardena Samuels, Esther Azizi, Nouar Qutob, Lilah Inzelberg, Eytan Domany, Edna Schechtman, Eitan Friedman
Schellenberg, Gerard D.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Scott, William K.
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
Sequeiros, Jorge
- Open AccessGenomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PDSara Morais, Rita Bastos-Ferreira, Jorge Sequeiros, Isabel Alonso
Severino, Mariasavina
- Open AccessWhite matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
Severt, Lawrence
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Shaag, Avraham
- Open AccessDeleterious mutation in GPR88 is associated with chorea, speech delay, and learning disabilitiesFadi Alkufri, Avraham Shaag, Bassam Abu-Libdeh, Orly Elpeleg
Soong, Bing-Wen
- Open AccessSpinocerebellar ataxia type 36 in the Han ChineseYi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Guan-Ting Liu, Yi-Chu Liao, Bing-Wen Soong
Stover, Natividad P.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Striano, Pasquale
- Open AccessWhite matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
T
Teichmann, Marc
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Thomas-Antérion, Catherine
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Thompson, Misty M.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Todd, Peter K.
- Open AccessScreening for novel hexanucleotide repeat expansions at ALS- and FTD-associated lociFang He, Julie M. Jones, Claudia Figueroa-Romero, Dapeng Zhang, Eva L. Feldman, Stephen A. Goutman, Miriam H. Meisler, Brian C. Callaghan, Peter K. Todd
Tsai, Pei-Chien
- Open AccessSpinocerebellar ataxia type 36 in the Han ChineseYi-Chung Lee, Pei-Chien Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Guan-Ting Liu, Yi-Chu Liao, Bing-Wen Soong
V
Van Booven, Derek
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Vance, Jeffery M.
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
van Swieten, John C.
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Vardarajan, Badri N.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Vemula, Satya R.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
W
Wang, Liyong
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
Weissbach, Anne
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Whitehead, Patrice L.
- Open AccessABCA7 frameshift deletion associated with Alzheimer disease in African AmericansHolly N. Cukier, Brian W. Kunkle, Badri N. Vardarajan, Sophie Rolati, Kara L. Hamilton-Nelson, Martin A. Kohli, Patrice L. Whitehead, Beth A. Dombroski, Derek Van Booven, Rosalyn Lang, Derek M. Dykxhoorn, Lindsay A. Farrer, Michael L. Cuccaro, Jeffery M. Vance, John R. Gilbert, Gary W. Beecham, Eden R. Martin, Regina M. Carney, Richard Mayeux, Gerard D. Schellenberg, Goldie S. Byrd, Jonathan L. Haines, Margaret A. Pericak-Vance, For the Alzheimer's Disease Genetics Consortium
Wong, Tsz Hang
- Open AccessDefining the spectrum of frontotemporal dementias associated with TARDBP mutationsPaola Caroppo, Agnès Camuzat, Léna Guillot-Noel, Catherine Thomas-Antérion, Philippe Couratier, Tsz Hang Wong, Marc Teichmann, Véronique Golfier, Sophie Auriacombe, Serge Belliard, Bernard Laurent, Serena Lattante, Stéphanie Millecamps, Fabienne Clot, Bruno Dubois, John C. van Swieten, Alexis Brice, Isabelle Le Ber
Wright, Laura J.
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Wu, Zhi-Ying
- Open AccessFTL mutation in a Chinese pedigree with neuroferritinopathyWang Ni, Hong-Fu Li, Yi-Cen Zheng, Zhi-Ying Wu
X
Xiao, Jianfeng
- Open AccessClinical and genetic features of cervical dystonia in a large multicenter cohortMark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover
Y
Yalnızoğlu, Dilek
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Yarrow, Anna
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Yılmaz, Didem Yücel
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Yüksel, Deniz
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Z
Zabetian, Cyrus P.
- Open AccessDNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficientLiyong Wang, Lizmarie Maldonado, Gary W. Beecham, Eden R. Martin, Marian L. Evatt, James C. Ritchie, Jonathan L. Haines, Cyrus P. Zabetian, Haydeh Payami, Margaret A. Pericak-Vance, Jeffery M. Vance, William K. Scott
Zara, Federico
- Open AccessWhite matter involvement in a family with a novel PDGFB mutationRoberta Biancheri, Mariasavina Severino, Angela Robbiano, Michele Iacomino, Massimo Del Sette, Carlo Minetti, Mariarosaria Cervasio, Marialaura Del Basso De Caro, Pasquale Striano, Federico Zara
Zhang, Dapeng
- Open AccessScreening for novel hexanucleotide repeat expansions at ALS- and FTD-associated lociFang He, Julie M. Jones, Claudia Figueroa-Romero, Dapeng Zhang, Eva L. Feldman, Stephen A. Goutman, Miriam H. Meisler, Brian C. Callaghan, Peter K. Todd
Zhang, Jianguo
- Open AccessHomozygous GNAL mutation associated with familial childhood-onset generalized dystoniaIkuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer
Zheng, Yi-Cen
- Open AccessFTL mutation in a Chinese pedigree with neuroferritinopathyWang Ni, Hong-Fu Li, Yi-Cen Zheng, Zhi-Ying Wu
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