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August 2018; 4 (4)

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A

  1. Anand, Geetha

    1. Open Access
      De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
      Emma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton

  2. Anastasaki, Corina

    1. Open Access
      Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1
      Morgan E. Freret, Corina Anastasaki, David H. Gutmann

  3. Appleby, Brian

    1. Open Access
      Impaired transmissibility of atypical prions from genetic CJDG114V
      Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni

  4. Ashizawa, Tetsuo

    1. Open Access
      Longitudinal analysis of contrast acuity in Friedreich ataxia
      Ali 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

  1. Backus, Steven

    1. Open Access
      Population genealogy resource shows evidence of familial clustering for Alzheimer disease
      Lisa 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

  2. Barbosa, Ines A.

    1. Open Access
      De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
      Emma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton

  3. Berry-Kravis, Elizabeth

    1. Open Access
      ASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndrome
      Padmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall

  4. Bourque, Pierre R.

    1. Open Access
      Novel 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

  5. Boycott, Kym M.

    1. Open Access
      Novel 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

  6. Bradshaw, Scott H.

    1. Open Access
      Novel 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

  7. Brocht, Alicia

    1. Open Access
      Longitudinal analysis of contrast acuity in Friedreich ataxia
      Ali 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

  8. Bruni, Francesco

    1. Open Access
      Confirming 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

  9. Bu, Guojun

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  10. Burrage, Lindsay C.

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  1. Caldecott, Keith W.

    1. Open Access
      Confirming 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

  2. Calero-Romero, Irène

    1. Open Access
      Axon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAP
      Irène Calero-Romero, Marc R. Suter, Bernard Waeber, Francois Feihl, Thierry Kuntzer

  3. Cali, Ignazio

    1. Open Access
      Impaired transmissibility of atypical prions from genetic CJDG114V
      Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni

  4. Cannon-Albright, Lisa Anne

    1. Open Access
      Population genealogy resource shows evidence of familial clustering for Alzheimer disease
      Lisa 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

  5. Carver, Janet

    1. Open Access
      De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
      Emma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton

  6. Castoro, Ryan

    1. Open Access
      SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology
      Ryan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li

  7. Cerny, Johni

    1. Open Access
      Population genealogy resource shows evidence of familial clustering for Alzheimer disease
      Lisa 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

  8. Chen, Rui

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  9. Cheshire, William P.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  10. Contreras, Jorge

    1. Open Access
      Population genealogy resource shows evidence of familial clustering for Alzheimer disease
      Lisa 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

  11. Couthouis, Julien

    1. Open Access
      These violent repeats have violent extends
      Julien Couthouis, Aaron D. Gitler

D

  1. de Brouwer, Arjan P.M.

    1. Open Access
      Confirming 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

  2. Delatycki, Martin B.

    1. Open Access
      Longitudinal analysis of contrast acuity in Friedreich ataxia
      Ali 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

  3. Dhar, Shweta U.

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  4. Dickson, Dennis W.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  5. Dintelman, Sue

    1. Open Access
      Population genealogy resource shows evidence of familial clustering for Alzheimer disease
      Lisa 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

  6. Dombi, Eszter

    1. Open Access
      De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
      Emma 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

  1. Eng, Christine M.

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  1. Farnham, James Michael

    1. Open Access
      Population genealogy resource shows evidence of familial clustering for Alzheimer disease
      Lisa 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

  2. Feihl, Francois

    1. Open Access
      Axon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAP
      Irène Calero-Romero, Marc R. Suter, Bernard Waeber, Francois Feihl, Thierry Kuntzer

  3. Fratter, Carl

    1. Open Access
      De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
      Emma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton

  4. Freret, Morgan E.

    1. Open Access
      Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1
      Morgan E. Freret, Corina Anastasaki, David H. Gutmann

  5. Fujioka, Shinsuke

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  6. Fuller, Gregory N.

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  1. Gambetti, Pierluigi

    1. Open Access
      Impaired transmissibility of atypical prions from genetic CJDG114V
      Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni

  2. Gitler, Aaron D.

    1. Open Access
      These violent repeats have violent extends
      Julien Couthouis, Aaron D. Gitler

  3. Gregory, Crystal

    1. Open Access
      Impaired transmissibility of atypical prions from genetic CJDG114V
      Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni

  4. Gule-Monroe, Maria K.

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  5. Gutmann, David H.

    1. Open Access
      Independent NF1 mutations underlie café-au-lait macule development in a woman with segmental NF1
      Morgan E. Freret, Corina Anastasaki, David H. Gutmann

H

  1. Hall, Deborah A.

    1. Open Access
      ASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndrome
      Padmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall

  2. Hamedani, Ali G.

    1. Open Access
      Longitudinal analysis of contrast acuity in Friedreich ataxia
      Ali 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

  3. Harrison, Victoria

    1. Open Access
      De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
      Emma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton

  4. Hartley, Taila

    1. Open Access
      Novel 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

  5. Hauser, Lauren A.

    1. Open Access
      Longitudinal analysis of contrast acuity in Friedreich ataxia
      Ali 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

  6. He, Langping

    1. Open Access
      Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy
      Martin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez
    2. Open Access
      Confirming 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

  7. Heckman, Michael G.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  8. Hedberg-Oldfors, Carola

    1. Open Access
      Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy
      Carola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors

  9. Hirano, Makito

    1. Open Access
      Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene
      Makito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki

  10. Hofer, Monika

    1. Open Access
      De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
      Emma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton

  11. Hopton, Sila

    1. Open Access
      Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy
      Martin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez

  12. Huang, Derek

    1. Open Access
      SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology
      Ryan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li

I

  1. Isono, Chiharu

    1. Open Access
      Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene
      Makito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki

J

  1. Jackson, Jonathan

    1. Open Access
      ASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndrome
      Padmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall

  2. Jain, Mahim

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  3. Jankovic, Joseph

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  4. Jayawant, Sandeep

    1. Open Access
      De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
      Emma 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

  1. Kauwe, John S.K.

    1. Open Access
      Population genealogy resource shows evidence of familial clustering for Alzheimer disease
      Lisa 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

  2. King, Martin S.

    1. Open Access
      Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy
      Martin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez

  3. Kirshen, Carly

    1. Open Access
      Novel 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

  4. Koga, Shunsuke

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  5. Kunji, Edmund R.S.

    1. Open Access
      Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy
      Martin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez

  6. Kuntzer, Thierry

    1. Open Access
      Axon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAP
      Irène Calero-Romero, Marc R. Suter, Bernard Waeber, Francois Feihl, Thierry Kuntzer

  7. Kusunoki, Susumu

    1. Open Access
      Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene
      Makito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki

L

  1. Labbé, Catherine

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  2. LaBerge, Lauren

    1. Open Access
      Novel 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

  3. Ladds, Emma

    1. Open Access
      De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
      Emma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton

  4. Lee, Brendan H.

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  5. Lee, Christopher

    1. Open Access
      SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology
      Ryan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li

  6. Lelli, Daniel A.

    1. Open Access
      Novel 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

  7. Lewis, Richard A.

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  8. Li, Jun

    1. Open Access
      SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology
      Ryan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li

  9. Lindberg, Christopher

    1. Open Access
      Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy
      Carola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors

  10. Lorenzo-Betancor, Oswaldo

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  11. Low, Phillip A.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  12. Lynch, David R.

    1. Open Access
      Longitudinal analysis of contrast acuity in Friedreich ataxia
      Ali 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

  1. Machol, Keren

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  2. Maness, Tim

    1. Open Access
      Population genealogy resource shows evidence of familial clustering for Alzheimer disease
      Lisa 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

  3. Martens, Yuka A.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  4. Martinez, Manuel Camacho

    1. Open Access
      Impaired transmissibility of atypical prions from genetic CJDG114V
      Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni

  5. Mastrianni, James A.

    1. Open Access
      Impaired transmissibility of atypical prions from genetic CJDG114V
      Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni

  6. Mathews, Katherine

    1. Open Access
      Longitudinal analysis of contrast acuity in Friedreich ataxia
      Ali 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

  7. Meyer, Laurence J.

    1. Open Access
      Population genealogy resource shows evidence of familial clustering for Alzheimer disease
      Lisa 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

  8. Mikhail, Fadi

    1. Open Access
      Impaired transmissibility of atypical prions from genetic CJDG114V
      Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni

  9. Moretti, Paolo

    1. Open Access
      Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene
      Angela R. Sung, Paolo Moretti, Aziz Shaibani

  10. Moretti, Paolo M.

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  1. Nakamura, Yusaku

    1. Open Access
      Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene
      Makito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki

  2. Niyazov, Dmitriy

    1. Open Access
      Confirming 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

  3. Norstrom, Eric

    1. Open Access
      Impaired transmissibility of atypical prions from genetic CJDG114V
      Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni

O

  1. Ogaki, Kotaro

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  2. Oldfors, Anders

    1. Open Access
      Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy
      Carola Hedberg-Oldfors, Christopher Lindberg, Anders Oldfors

  3. Ortiz-Gonzalez, Xilma R.

    1. Open Access
      Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy
      Martin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez

  4. Ouyang, Bichun

    1. Open Access
      ASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndrome
      Padmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall

P

  1. Pandya, Shrikant

    1. Open Access
      ASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndrome
      Padmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall

  2. Paucar, Martin

    1. Open Access
      GLRA1 mutation and long-term follow-up of the first hyperekplexia family
      Martin Paucar, Josefine Waldthaler, Per Svenningsson

  3. Penas-Prado, Marta

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  4. Perlman, Susan

    1. Open Access
      Longitudinal analysis of contrast acuity in Friedreich ataxia
      Ali 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

  5. Poulton, Joanna

    1. Open Access
      De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
      Emma 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

  1. Qin, Kefeng

    1. Open Access
      Impaired transmissibility of atypical prions from genetic CJDG114V
      Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni

R

  1. Ravi, Vignesh

    1. Open Access
      SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology
      Ryan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li

  2. Rosenfeld, Jill A.

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  3. Ross, Owen A.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  1. Saigoh, Kazumasa

    1. Open Access
      Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene
      Makito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki

  2. Samukawa, Makoto

    1. Open Access
      Noncoding repeat expansions for ALS in Japan are associated with the ATXN8OS gene
      Makito Hirano, Makoto Samukawa, Chiharu Isono, Kazumasa Saigoh, Yusaku Nakamura, Susumu Kusunoki

  3. Sergent, John

    1. Open Access
      SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology
      Ryan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li

  4. Shaibani, Aziz

    1. Open Access
      Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene
      Angela R. Sung, Paolo Moretti, Aziz Shaibani

  5. Sharp, Kevin

    1. Open Access
      ASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndrome
      Padmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall

  6. Simmons, Megan

    1. Open Access
      SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology
      Ryan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li

  7. Simpson, Michael

    1. Open Access
      De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
      Emma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton

  8. Singer, Wolfgang

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  9. Solanki, Ani

    1. Open Access
      Impaired transmissibility of atypical prions from genetic CJDG114V
      Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni

  10. Soto, Alexandra I.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  11. Subramony, S.H.

    1. Open Access
      Longitudinal analysis of contrast acuity in Friedreich ataxia
      Ali 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

  12. Sung, Angela R.

    1. Open Access
      Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene
      Angela R. Sung, Paolo Moretti, Aziz Shaibani

  13. Suter, Marc R.

    1. Open Access
      Axon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAP
      Irène Calero-Romero, Marc R. Suter, Bernard Waeber, Francois Feihl, Thierry Kuntzer

  14. Svenningsson, Per

    1. Open Access
      GLRA1 mutation and long-term follow-up of the first hyperekplexia family
      Martin Paucar, Josefine Waldthaler, Per Svenningsson

T

  1. Taylor, Robert

    1. Open Access
      Confirming 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

  2. Taylor, Robert W.

    1. Open Access
      Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy
      Martin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez

  3. Teerlink, Craig Carl

    1. Open Access
      Population genealogy resource shows evidence of familial clustering for Alzheimer disease
      Lisa 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

  4. Thomas, Alun

    1. Open Access
      Population genealogy resource shows evidence of familial clustering for Alzheimer disease
      Lisa 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

  5. Thompson, Kyle

    1. Open Access
      Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy
      Martin S. King, Kyle Thompson, Sila Hopton, Langping He, Edmund R.S. Kunji, Robert W. Taylor, Xilma R. Ortiz-Gonzalez
    2. Open Access
      Confirming 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

  1. Uitti, Ryan J.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  1. van Gerpen, Jay A.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  2. Vargas, Emily R.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  3. Vijayakumar, Dhanya

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  4. Vittal, Padmaja

    1. Open Access
      ASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndrome
      Padmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall

W

  1. Waeber, Bernard

    1. Open Access
      Axon reflex–mediated vasodilation is reduced in proportion to disease severity in TTR-FAP
      Irène Calero-Romero, Marc R. Suter, Bernard Waeber, Francois Feihl, Thierry Kuntzer

  2. Waldthaler, Josefine

    1. Open Access
      GLRA1 mutation and long-term follow-up of the first hyperekplexia family
      Martin Paucar, Josefine Waldthaler, Per Svenningsson

  3. Walker, Sarah

    1. Open Access
      Confirming 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

  4. Walton, Ronald L.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  5. Warman-Chardon, Jodi

    1. Open Access
      Novel 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

  6. Whitney, Andrea

    1. Open Access
      De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity
      Emma Ladds, Andrea Whitney, Eszter Dombi, Monika Hofer, Geetha Anand, Victoria Harrison, Carl Fratter, Janet Carver, Ines A. Barbosa, Michael Simpson, Sandeep Jayawant, Joanna Poulton

  7. Wilmot, George R.

    1. Open Access
      Longitudinal analysis of contrast acuity in Friedreich ataxia
      Ali 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

  8. Wszolek, Zbigniew K.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  1. Xu, Mingchu

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  1. Yang, Yaping

    1. Open Access
      Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma
      Keren 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

  2. Younkin, Steven G.

    1. Open Access
      Association study between multiple system atrophy and TREM2 p.R47H
      Kotaro 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

  1. Zagnoli-Vieira, Guido

    1. Open Access
      Confirming 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

  2. Zesiewicz, Theresa

    1. Open Access
      Longitudinal analysis of contrast acuity in Friedreich ataxia
      Ali 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

  3. Zhao, Lili

    1. Open Access
      Impaired transmissibility of atypical prions from genetic CJDG114V
      Ignazio Cali, Fadi Mikhail, Kefeng Qin, Crystal Gregory, Ani Solanki, Manuel Camacho Martinez, Lili Zhao, Brian Appleby, Pierluigi Gambetti, Eric Norstrom, James A. Mastrianni

  4. Zhou, Lan

    1. Open Access
      SCN11A Arg225Cys mutation causes nociceptive pain without detectable peripheral nerve pathology
      Ryan Castoro, Megan Simmons, Vignesh Ravi, Derek Huang, Christopher Lee, John Sergent, Lan Zhou, Jun Li

  5. Zhou, Lili

    1. Open Access
      ASFMR1 splice variantA predictor of fragile X-associated tremor/ataxia syndrome
      Padmaja Vittal, Shrikant Pandya, Kevin Sharp, Elizabeth Berry-Kravis, Lili Zhou, Bichun Ouyang, Jonathan Jackson, Deborah A. Hall
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Neurology Genetics: 4 (4)
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