Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Specialty Sites
    • Equity, Diversity, and Inclusion
    • Innovations in Care Delivery
    • Without Borders
  • Collections
    • Topics A-Z
    • Residents & Fellows
    • Infographics
    • Patient Pages
    • Null Hypothesis
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center

Advanced Search

Main menu

  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Specialty Sites
    • Equity, Diversity, and Inclusion
    • Innovations in Care Delivery
    • Without Borders
  • Collections
    • Topics A-Z
    • Residents & Fellows
    • Infographics
    • Patient Pages
    • Null Hypothesis
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center
  • Home
  • Articles
  • Issues

User menu

  • My Alerts
  • Log in

Search

  • Advanced search
Neurology Genetics
Home
A peer-reviewed clinical and translational neurology open access journal
  • My Alerts
  • Log in
Site Logo
  • Home
  • Articles
  • Issues

Share

August 2018; 4 (4)

Share

  • A
  • B
  • C
  • D
  • E
  • F
  • G
  • H
  • I
  • J
  • K
  • L
  • M
  • N
  • O
  • P
  • Q
  • R
  • S
  • T
  • U
  • V
  • W
  • X
  • Y
  • Z

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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  11. Couthouis, Julien

    1. Open Access
      These violent repeats have violent extends
      Julien Couthouis, Aaron D. Gitler
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)

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
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Gitler, Aaron D.

    1. Open Access
      These violent repeats have violent extends
      Julien Couthouis, Aaron D. Gitler
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
    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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Paucar, Martin

    1. Open Access
      GLRA1 mutation and long-term follow-up of the first hyperekplexia family
      Martin Paucar, Josefine Waldthaler, Per Svenningsson
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  14. Svenningsson, Per

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

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
    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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  2. Waldthaler, Josefine

    1. Open Access
      GLRA1 mutation and long-term follow-up of the first hyperekplexia family
      Martin Paucar, Josefine Waldthaler, Per Svenningsson
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Full Text
      • Full Text (PDF)

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
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)

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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
  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
      • Abstract
      • Full Text
      • Full Text (PDF)
Back to top
PreviousNext
Previous IssueNext Issue
Neurology Genetics: 4 (4)
  • Table of Contents
  • Table of Contents (PDF)
  • About the Cover
  • Index by author
  • Full Issue PDF
Subscribe to e-Alerts
RSS
Advertisement
Popular on
Neurology: Genetics
  • Most Read
  • Most Cited
Loading
  • Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7
  • Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
  • Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants
  • New recessive mutations in SYT2 causing severe presynaptic congenital myasthenic syndromes
  • Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy
More...
Advertisement
Neurology Genetics: 7 (1)

Articles

  • Articles
  • Issues
  • Popular Articles

About

  • About the Journals
  • Ethics Policies
  • Editors & Editorial Board
  • Contact Us
  • Advertise

Submit

  • Author Center
  • Submit a Manuscript
  • Information for Reviewers
  • AAN Guidelines
  • Permissions

Subscribers

  • Subscribe
  • Sign up for eAlerts
  • RSS Feed
Site Logo
  • Visit neurology Template on Facebook
  • Follow neurology Template on Twitter
  • Visit Neurology on YouTube
  • Neurology
  • Neurology: Clinical Practice
  • Neurology: Genetics
  • Neurology: Neuroimmunology & Neuroinflammation
  • AAN.com
  • AANnews
  • Continuum
  • Brain & Life
  • Neurology Today

Wolters Kluwer Logo

Neurology: Genetics | Online ISSN: 2376-7839

© 2021 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise