A
Anand, Geetha
- Open AccessDe novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
Anastasaki, Corina
- Open AccessIndependent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1Morgan E. Freret, Corina Anastasaki, David H. Gutmann
Appleby, Brian
- Open AccessImpaired transmissibility of atypical prions from genetic CJDG114VIgnazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni
Ashizawa, Tetsuo
- Open AccessLongitudinal analysis of contrast acuity in Friedreich ataxiaAli G. Hamedani, Lauren A. Hauser, Susan Perlman, Katherine Mathews, George R. Wilmot, Theresa Zesiewicz, S.H. Subramony, Tetsuo Ashizawa, Martin B. Delatycki, Alicia Brocht, David R. Lynch
B
Backus, Steven
- Open AccessPopulation genealogy resource shows evidence of familial clustering for Alzheimer diseaseLisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, Johni Cerny, Alun Thomas, Steven Backus, James Michael Farnham, Craig Carl Teerlink, Jorge Contreras, John S.K. Kauwe, Laurence J. Meyer
Barbosa, Ines A.
- Open AccessDe novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
Berry-Kravis, Elizabeth
- Open AccessASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndromePadmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall
Bourque, Pierre R.
- Open AccessNovel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R. Bourque, Jodi Warman-Chardon, Daniel A. Lelli, Lauren LaBerge, Carly Kirshen, Scott H. Bradshaw, Taila Hartley, Kym M. Boycott
Boycott, Kym M.
- Open AccessNovel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R. Bourque, Jodi Warman-Chardon, Daniel A. Lelli, Lauren LaBerge, Carly Kirshen, Scott H. Bradshaw, Taila Hartley, Kym M. Boycott
Bradshaw, Scott H.
- Open AccessNovel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R. Bourque, Jodi Warman-Chardon, Daniel A. Lelli, Lauren LaBerge, Carly Kirshen, Scott H. Bradshaw, Taila Hartley, Kym M. Boycott
Brocht, Alicia
- Open AccessLongitudinal analysis of contrast acuity in Friedreich ataxiaAli G. Hamedani, Lauren A. Hauser, Susan Perlman, Katherine Mathews, George R. Wilmot, Theresa Zesiewicz, S.H. Subramony, Tetsuo Ashizawa, Martin B. Delatycki, Alicia Brocht, David R. Lynch
Bruni, Francesco
- Open AccessConfirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, Langping He, Sarah Walker, Arjan P.M. de Brouwer, Robert Taylor, Dmitriy Niyazov, Keith W. Caldecott
Bu, Guojun
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Burrage, Lindsay C.
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
C
Caldecott, Keith W.
- Open AccessConfirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, Langping He, Sarah Walker, Arjan P.M. de Brouwer, Robert Taylor, Dmitriy Niyazov, Keith W. Caldecott
Calero-Romero, Irène
- Open AccessAxon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAPIrène Calero-Romero, Marc R. Suter, Bernard Waeber, Francois Feihl, Thierry Kuntzer
Cali, Ignazio
- Open AccessImpaired transmissibility of atypical prions from genetic CJDG114VIgnazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni
Cannon-Albright, Lisa Anne
- Open AccessPopulation genealogy resource shows evidence of familial clustering for Alzheimer diseaseLisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, Johni Cerny, Alun Thomas, Steven Backus, James Michael Farnham, Craig Carl Teerlink, Jorge Contreras, John S.K. Kauwe, Laurence J. Meyer
Carver, Janet
- Open AccessDe novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
Castoro, Ryan
- Open AccessSCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathologyRyan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li
Cerny, Johni
- Open AccessPopulation genealogy resource shows evidence of familial clustering for Alzheimer diseaseLisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, Johni Cerny, Alun Thomas, Steven Backus, James Michael Farnham, Craig Carl Teerlink, Jorge Contreras, John S.K. Kauwe, Laurence J. Meyer
Chen, Rui
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Cheshire, William P.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Contreras, Jorge
- Open AccessPopulation genealogy resource shows evidence of familial clustering for Alzheimer diseaseLisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, Johni Cerny, Alun Thomas, Steven Backus, James Michael Farnham, Craig Carl Teerlink, Jorge Contreras, John S.K. Kauwe, Laurence J. Meyer
Couthouis, Julien
D
de Brouwer, Arjan P.M.
- Open AccessConfirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, Langping He, Sarah Walker, Arjan P.M. de Brouwer, Robert Taylor, Dmitriy Niyazov, Keith W. Caldecott
Delatycki, Martin B.
- Open AccessLongitudinal analysis of contrast acuity in Friedreich ataxiaAli G. Hamedani, Lauren A. Hauser, Susan Perlman, Katherine Mathews, George R. Wilmot, Theresa Zesiewicz, S.H. Subramony, Tetsuo Ashizawa, Martin B. Delatycki, Alicia Brocht, David R. Lynch
Dhar, Shweta U.
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Dickson, Dennis W.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Dintelman, Sue
- Open AccessPopulation genealogy resource shows evidence of familial clustering for Alzheimer diseaseLisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, Johni Cerny, Alun Thomas, Steven Backus, James Michael Farnham, Craig Carl Teerlink, Jorge Contreras, John S.K. Kauwe, Laurence J. Meyer
Dombi, Eszter
- Open AccessDe novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
E
Eng, Christine M.
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
F
Farnham, James Michael
- Open AccessPopulation genealogy resource shows evidence of familial clustering for Alzheimer diseaseLisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, Johni Cerny, Alun Thomas, Steven Backus, James Michael Farnham, Craig Carl Teerlink, Jorge Contreras, John S.K. Kauwe, Laurence J. Meyer
Feihl, Francois
- Open AccessAxon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAPIrène Calero-Romero, Marc R. Suter, Bernard Waeber, Francois Feihl, Thierry Kuntzer
Fratter, Carl
- Open AccessDe novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
Freret, Morgan E.
- Open AccessIndependent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1Morgan E. Freret, Corina Anastasaki, David H. Gutmann
Fujioka, Shinsuke
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Fuller, Gregory N.
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
G
Gambetti, Pierluigi
- Open AccessImpaired transmissibility of atypical prions from genetic CJDG114VIgnazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni
Gitler, Aaron D.
Gregory, Crystal
- Open AccessImpaired transmissibility of atypical prions from genetic CJDG114VIgnazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni
Gule-Monroe, Maria K.
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Gutmann, David H.
- Open AccessIndependent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1Morgan E. Freret, Corina Anastasaki, David H. Gutmann
H
Hall, Deborah A.
- Open AccessASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndromePadmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall
Hamedani, Ali G.
- Open AccessLongitudinal analysis of contrast acuity in Friedreich ataxiaAli G. Hamedani, Lauren A. Hauser, Susan Perlman, Katherine Mathews, George R. Wilmot, Theresa Zesiewicz, S.H. Subramony, Tetsuo Ashizawa, Martin B. Delatycki, Alicia Brocht, David R. Lynch
Harrison, Victoria
- Open AccessDe novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
Hartley, Taila
- Open AccessNovel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R. Bourque, Jodi Warman-Chardon, Daniel A. Lelli, Lauren LaBerge, Carly Kirshen, Scott H. Bradshaw, Taila Hartley, Kym M. Boycott
Hauser, Lauren A.
- Open AccessLongitudinal analysis of contrast acuity in Friedreich ataxiaAli G. Hamedani, Lauren A. Hauser, Susan Perlman, Katherine Mathews, George R. Wilmot, Theresa Zesiewicz, S.H. Subramony, Tetsuo Ashizawa, Martin B. Delatycki, Alicia Brocht, David R. Lynch
He, Langping
- Open AccessExpanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathyMartin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez
- Open AccessConfirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, Langping He, Sarah Walker, Arjan P.M. de Brouwer, Robert Taylor, Dmitriy Niyazov, Keith W. Caldecott
Heckman, Michael G.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Hedberg-Oldfors, Carola
- Open AccessCarey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophyCarola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors
Hirano, Makito
- Open AccessNoncoding repeat expansions for ALS in Japan are associated with the ATXN8OS geneMakito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki
Hofer, Monika
- Open AccessDe novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
Hopton, Sila
- Open AccessExpanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathyMartin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez
Huang, Derek
- Open AccessSCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathologyRyan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li
I
Isono, Chiharu
- Open AccessNoncoding repeat expansions for ALS in Japan are associated with the ATXN8OS geneMakito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki
J
Jackson, Jonathan
- Open AccessASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndromePadmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall
Jain, Mahim
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Jankovic, Joseph
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Jayawant, Sandeep
- Open AccessDe novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
K
Kauwe, John S.K.
- Open AccessPopulation genealogy resource shows evidence of familial clustering for Alzheimer diseaseLisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, Johni Cerny, Alun Thomas, Steven Backus, James Michael Farnham, Craig Carl Teerlink, Jorge Contreras, John S.K. Kauwe, Laurence J. Meyer
King, Martin S.
- Open AccessExpanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathyMartin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez
Kirshen, Carly
- Open AccessNovel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R. Bourque, Jodi Warman-Chardon, Daniel A. Lelli, Lauren LaBerge, Carly Kirshen, Scott H. Bradshaw, Taila Hartley, Kym M. Boycott
Koga, Shunsuke
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Kunji, Edmund R.S.
- Open AccessExpanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathyMartin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez
Kuntzer, Thierry
- Open AccessAxon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAPIrène Calero-Romero, Marc R. Suter, Bernard Waeber, Francois Feihl, Thierry Kuntzer
Kusunoki, Susumu
- Open AccessNoncoding repeat expansions for ALS in Japan are associated with the ATXN8OS geneMakito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki
L
Labbé, Catherine
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
LaBerge, Lauren
- Open AccessNovel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R. Bourque, Jodi Warman-Chardon, Daniel A. Lelli, Lauren LaBerge, Carly Kirshen, Scott H. Bradshaw, Taila Hartley, Kym M. Boycott
Ladds, Emma
- Open AccessDe novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
Lee, Brendan H.
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Lee, Christopher
- Open AccessSCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathologyRyan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li
Lelli, Daniel A.
- Open AccessNovel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R. Bourque, Jodi Warman-Chardon, Daniel A. Lelli, Lauren LaBerge, Carly Kirshen, Scott H. Bradshaw, Taila Hartley, Kym M. Boycott
Lewis, Richard A.
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Li, Jun
- Open AccessSCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathologyRyan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li
Lindberg, Christopher
- Open AccessCarey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophyCarola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors
Lorenzo-Betancor, Oswaldo
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Low, Phillip A.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Lynch, David R.
- Open AccessLongitudinal analysis of contrast acuity in Friedreich ataxiaAli G. Hamedani, Lauren A. Hauser, Susan Perlman, Katherine Mathews, George R. Wilmot, Theresa Zesiewicz, S.H. Subramony, Tetsuo Ashizawa, Martin B. Delatycki, Alicia Brocht, David R. Lynch
M
Machol, Keren
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Maness, Tim
- Open AccessPopulation genealogy resource shows evidence of familial clustering for Alzheimer diseaseLisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, Johni Cerny, Alun Thomas, Steven Backus, James Michael Farnham, Craig Carl Teerlink, Jorge Contreras, John S.K. Kauwe, Laurence J. Meyer
Martens, Yuka A.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Martinez, Manuel Camacho
- Open AccessImpaired transmissibility of atypical prions from genetic CJDG114VIgnazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni
Mastrianni, James A.
- Open AccessImpaired transmissibility of atypical prions from genetic CJDG114VIgnazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni
Mathews, Katherine
- Open AccessLongitudinal analysis of contrast acuity in Friedreich ataxiaAli G. Hamedani, Lauren A. Hauser, Susan Perlman, Katherine Mathews, George R. Wilmot, Theresa Zesiewicz, S.H. Subramony, Tetsuo Ashizawa, Martin B. Delatycki, Alicia Brocht, David R. Lynch
Meyer, Laurence J.
- Open AccessPopulation genealogy resource shows evidence of familial clustering for Alzheimer diseaseLisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, Johni Cerny, Alun Thomas, Steven Backus, James Michael Farnham, Craig Carl Teerlink, Jorge Contreras, John S.K. Kauwe, Laurence J. Meyer
Mikhail, Fadi
- Open AccessImpaired transmissibility of atypical prions from genetic CJDG114VIgnazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni
Moretti, Paolo
- Open AccessCase of late-onset Sandhoff disease due to a novel mutation in the HEXB geneAngela R. Sung, Paolo Moretti, Aziz Shaibani
Moretti, Paolo M.
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
N
Nakamura, Yusaku
- Open AccessNoncoding repeat expansions for ALS in Japan are associated with the ATXN8OS geneMakito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki
Niyazov, Dmitriy
- Open AccessConfirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, Langping He, Sarah Walker, Arjan P.M. de Brouwer, Robert Taylor, Dmitriy Niyazov, Keith W. Caldecott
Norstrom, Eric
- Open AccessImpaired transmissibility of atypical prions from genetic CJDG114VIgnazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni
O
Ogaki, Kotaro
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Oldfors, Anders
- Open AccessCarey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophyCarola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors
Ortiz-Gonzalez, Xilma R.
- Open AccessExpanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathyMartin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez
Ouyang, Bichun
- Open AccessASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndromePadmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall
P
Pandya, Shrikant
- Open AccessASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndromePadmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall
Paucar, Martin
- Open AccessGLRA1 mutation and long-term follow-up of the first hyperekplexia familyMartin Paucar, Josefine Waldthaler, Per Svenningsson
Penas-Prado, Marta
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Perlman, Susan
- Open AccessLongitudinal analysis of contrast acuity in Friedreich ataxiaAli G. Hamedani, Lauren A. Hauser, Susan Perlman, Katherine Mathews, George R. Wilmot, Theresa Zesiewicz, S.H. Subramony, Tetsuo Ashizawa, Martin B. Delatycki, Alicia Brocht, David R. Lynch
Poulton, Joanna
- Open AccessDe novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
Q
Qin, Kefeng
- Open AccessImpaired transmissibility of atypical prions from genetic CJDG114VIgnazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni
R
Ravi, Vignesh
- Open AccessSCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathologyRyan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li
Rosenfeld, Jill A.
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Ross, Owen A.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
S
Saigoh, Kazumasa
- Open AccessNoncoding repeat expansions for ALS in Japan are associated with the ATXN8OS geneMakito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki
Samukawa, Makoto
- Open AccessNoncoding repeat expansions for ALS in Japan are associated with the ATXN8OS geneMakito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki
Sergent, John
- Open AccessSCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathologyRyan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li
Shaibani, Aziz
- Open AccessCase of late-onset Sandhoff disease due to a novel mutation in the HEXB geneAngela R. Sung, Paolo Moretti, Aziz Shaibani
Sharp, Kevin
- Open AccessASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndromePadmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall
Simmons, Megan
- Open AccessSCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathologyRyan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li
Simpson, Michael
- Open AccessDe novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
Singer, Wolfgang
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Solanki, Ani
- Open AccessImpaired transmissibility of atypical prions from genetic CJDG114VIgnazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni
Soto, Alexandra I.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Subramony, S.H.
- Open AccessLongitudinal analysis of contrast acuity in Friedreich ataxiaAli G. Hamedani, Lauren A. Hauser, Susan Perlman, Katherine Mathews, George R. Wilmot, Theresa Zesiewicz, S.H. Subramony, Tetsuo Ashizawa, Martin B. Delatycki, Alicia Brocht, David R. Lynch
Sung, Angela R.
- Open AccessCase of late-onset Sandhoff disease due to a novel mutation in the HEXB geneAngela R. Sung, Paolo Moretti, Aziz Shaibani
Suter, Marc R.
- Open AccessAxon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAPIrène Calero-Romero, Marc R. Suter, Bernard Waeber, Francois Feihl, Thierry Kuntzer
Svenningsson, Per
- Open AccessGLRA1 mutation and long-term follow-up of the first hyperekplexia familyMartin Paucar, Josefine Waldthaler, Per Svenningsson
T
Taylor, Robert
- Open AccessConfirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, Langping He, Sarah Walker, Arjan P.M. de Brouwer, Robert Taylor, Dmitriy Niyazov, Keith W. Caldecott
Taylor, Robert W.
- Open AccessExpanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathyMartin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez
Teerlink, Craig Carl
- Open AccessPopulation genealogy resource shows evidence of familial clustering for Alzheimer diseaseLisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, Johni Cerny, Alun Thomas, Steven Backus, James Michael Farnham, Craig Carl Teerlink, Jorge Contreras, John S.K. Kauwe, Laurence J. Meyer
Thomas, Alun
- Open AccessPopulation genealogy resource shows evidence of familial clustering for Alzheimer diseaseLisa Anne Cannon-Albright, Sue Dintelman, Tim Maness, Johni Cerny, Alun Thomas, Steven Backus, James Michael Farnham, Craig Carl Teerlink, Jorge Contreras, John S.K. Kauwe, Laurence J. Meyer
Thompson, Kyle
- Open AccessExpanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathyMartin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez
- Open AccessConfirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, Langping He, Sarah Walker, Arjan P.M. de Brouwer, Robert Taylor, Dmitriy Niyazov, Keith W. Caldecott
U
Uitti, Ryan J.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
V
van Gerpen, Jay A.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Vargas, Emily R.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Vijayakumar, Dhanya
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Vittal, Padmaja
- Open AccessASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndromePadmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall
W
Waeber, Bernard
- Open AccessAxon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAPIrène Calero-Romero, Marc R. Suter, Bernard Waeber, Francois Feihl, Thierry Kuntzer
Waldthaler, Josefine
- Open AccessGLRA1 mutation and long-term follow-up of the first hyperekplexia familyMartin Paucar, Josefine Waldthaler, Per Svenningsson
Walker, Sarah
- Open AccessConfirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, Langping He, Sarah Walker, Arjan P.M. de Brouwer, Robert Taylor, Dmitriy Niyazov, Keith W. Caldecott
Walton, Ronald L.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Warman-Chardon, Jodi
- Open AccessNovel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34)Pierre R. Bourque, Jodi Warman-Chardon, Daniel A. Lelli, Lauren LaBerge, Carly Kirshen, Scott H. Bradshaw, Taila Hartley, Kym M. Boycott
Whitney, Andrea
- Open AccessDe novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivityEmma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton
Wilmot, George R.
- Open AccessLongitudinal analysis of contrast acuity in Friedreich ataxiaAli G. Hamedani, Lauren A. Hauser, Susan Perlman, Katherine Mathews, George R. Wilmot, Theresa Zesiewicz, S.H. Subramony, Tetsuo Ashizawa, Martin B. Delatycki, Alicia Brocht, David R. Lynch
Wszolek, Zbigniew K.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
X
Xu, Mingchu
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Y
Yang, Yaping
- Open AccessAtypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytomaKeren Machol, Joseph Jankovic, Dhanya Vijayakumar, Lindsay C. Burrage, Mahim Jain, Richard A. Lewis, Gregory N. Fuller, Mingchu Xu, Marta Penas-Prado, Maria K. Gule-Monroe, Jill A. Rosenfeld, Rui Chen, Christine M. Eng, Yaping Yang, Brendan H. Lee, Paolo M. Moretti, Undiagnosed Diseases Network, Shweta U. Dhar
Younkin, Steven G.
- Open AccessAssociation study between multiple system atrophy and TREM2 p.R47HKotaro Ogaki, Michael G. Heckman, Shunsuke Koga, Yuka A. Martens, Catherine Labbé, Oswaldo Lorenzo-Betancor, Ronald L. Walton, Alexandra I. Soto, Emily R. Vargas, Shinsuke Fujioka, Ryan J. Uitti, Jay A. van Gerpen, William P. Cheshire, Steven G. Younkin, Zbigniew K. Wszolek, Phillip A. Low, Wolfgang Singer, Guojun Bu, Dennis W. Dickson, Owen A. Ross
Z
Zagnoli-Vieira, Guido
- Open AccessConfirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23)Guido Zagnoli-Vieira, Francesco Bruni, Kyle Thompson, Langping He, Sarah Walker, Arjan P.M. de Brouwer, Robert Taylor, Dmitriy Niyazov, Keith W. Caldecott
Zesiewicz, Theresa
- Open AccessLongitudinal analysis of contrast acuity in Friedreich ataxiaAli G. Hamedani, Lauren A. Hauser, Susan Perlman, Katherine Mathews, George R. Wilmot, Theresa Zesiewicz, S.H. Subramony, Tetsuo Ashizawa, Martin B. Delatycki, Alicia Brocht, David R. Lynch
Zhao, Lili
- Open AccessImpaired transmissibility of atypical prions from genetic CJDG114VIgnazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni
Zhou, Lan
- Open AccessSCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathologyRyan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li
Zhou, Lili
- Open AccessASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndromePadmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall
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