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June 2018; 4 (3)

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A

  1. Ahmad, Arsalan

    1. Open Access
      Chorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencing
      Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian

  2. Aker, Mamdouh

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  3. Auranen, Mari

    1. Open Access
      Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
      Markus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa

B

  1. Baum, Larry

    1. Open Access
      Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis
      John K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny

  2. Below, Jennifer E.

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  3. Berkovic, Samuel F.

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

C

  1. Cavalcanti, Francesca

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  2. Cavallaro, Sebastiano

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  3. Chen, Jason

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  4. Cherny, Stacey S.

    1. Open Access
      Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis
      John K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny

  5. Coppola, Giovanni

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  6. Corr, Emma M.

    1. Open Access
      Determining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016
      Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman

  7. Cui, Liying

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

D

  1. Dad, Rubina

    1. Open Access
      Chorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencing
      Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian

  2. Damiano, John A.

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  3. Davis, Nicola

    1. Open Access
      Determining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016
      Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman

  4. DiGiovanna, John J.

    1. Open Access
      Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
      Niraj M. Shanbhag, Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, Laura J. Niedernhofer, May Christine V. Malicdan, Kenneth H. Kraemer, William A. Gahl, Camilo Toro

  5. Ding, Qingyun

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

  6. Do, Hongdo

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  7. Dobrovic, Alexander

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  8. Doherty, Mark A.

    1. Open Access
      Determining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016
      Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman

F

  1. Fogel, Brent L.

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  2. Fu, Hanhui

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

G

  1. Gahl, William A.

    1. Open Access
      Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
      Niraj M. Shanbhag, Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, Laura J. Niedernhofer, May Christine V. Malicdan, Kenneth H. Kraemer, William A. Gahl, Camilo Toro

  2. Gazquez, Cristina

    1. Open Access
      Brain copper storage after genetic long-term correction in a mouse model of Wilson disease
      Ricarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen

  3. Geschwind, Michael D.

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel
    2. Open Access
      Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
      Niraj M. Shanbhag, Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, Laura J. Niedernhofer, May Christine V. Malicdan, Kenneth H. Kraemer, William A. Gahl, Camilo Toro

  4. Gillies, Greta

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  5. Godfrey, Rena

    1. Open Access
      Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
      Niraj M. Shanbhag, Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, Laura J. Niedernhofer, May Christine V. Malicdan, Kenneth H. Kraemer, William A. Gahl, Camilo Toro

  6. González-Aseguinolaza, Gloria

    1. Open Access
      Brain copper storage after genetic long-term correction in a mouse model of Wilson disease
      Ricarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen

  7. Groden, Catherine

    1. Open Access
      Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
      Niraj M. Shanbhag, Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, Laura J. Niedernhofer, May Christine V. Malicdan, Kenneth H. Kraemer, William A. Gahl, Camilo Toro

  8. Gui, Hongsheng

    1. Open Access
      Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis
      John K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny

H

  1. Hardiman, Orla

    1. Open Access
      Determining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016
      Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman

  2. Harvey, A. Simon

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  3. Hassan, Muhammad Jawad

    1. Open Access
      Chorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencing
      Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian

  4. Hassin-Baer, Sharon

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  5. Hernández-Alcoceba, Rubén

    1. Open Access
      Brain copper storage after genetic long-term correction in a mouse model of Wilson disease
      Ricarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen

  6. Heverin, Mark

    1. Open Access
      Determining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016
      Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman

  7. Hildebrand, Michael S.

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

I

  1. Italiano, Domenico

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

J

  1. Jones, Nigel C.

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

K

  1. Kalnins, Renate

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  2. Kraemer, Kenneth H.

    1. Open Access
      Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
      Niraj M. Shanbhag, Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, Laura J. Niedernhofer, May Christine V. Malicdan, Kenneth H. Kraemer, William A. Gahl, Camilo Toro

  3. Kwan, Patrick

    1. Open Access
      Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis
      John K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny

  4. Kwok, Maxwell

    1. Open Access
      Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis
      John K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny

L

  1. Laganà, Angelina

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  2. Lahtela, Jenni

    1. Open Access
      Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
      Markus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa

  3. Leventer, Richard J.

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  4. Li, Xiaoguang

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

  5. Liu, Keqiang

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

  6. Liu, Mingsheng

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

  7. Liu, Qing

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

  8. Liu, Shuangwu

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

  9. Lockhart, Paul J.

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  10. Lui, Colin H.T.

    1. Open Access
      Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis
      John K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny

M

  1. Mäenpää, Laura

    1. Open Access
      Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
      Markus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa

  2. Maixner, Wirginia

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  3. Malicdan, May Christine V.

    1. Open Access
      Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
      Niraj M. Shanbhag, Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, Laura J. Niedernhofer, May Christine V. Malicdan, Kenneth H. Kraemer, William A. Gahl, Camilo Toro

  4. Malone, Stephen

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  5. Mattila, Pirkko

    1. Open Access
      Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
      Markus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa

  6. McLaughlin, Russell

    1. Open Access
      Determining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016
      Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman

  7. McQuillan, Lara

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  8. Minassian, Berge A.

    1. Open Access
      Chorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencing
      Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian

  9. Moreno, Daniel

    1. Open Access
      Brain copper storage after genetic long-term correction in a mouse model of Wilson disease
      Ricarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen

  10. Murillo, Oihana

    1. Open Access
      Brain copper storage after genetic long-term correction in a mouse model of Wilson disease
      Ricarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen

N

  1. Nelson, Alexandra B.

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  2. Ng, Ping Wing

    1. Open Access
      Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis
      John K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny

  3. Ngo, Kathie

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  4. Niedernhofer, Laura J.

    1. Open Access
      Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
      Niraj M. Shanbhag, Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, Laura J. Niedernhofer, May Christine V. Malicdan, Kenneth H. Kraemer, William A. Gahl, Camilo Toro

  5. Nobile, Carlo

    1. Open Access
      Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis–temporal lobe epilepsy
      Pasquale Striano, Carlo Nobile

  6. Nolan, Bernadette

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

O

  1. Ozturk, Ezgi

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

P

  1. Palmio, Johanna

    1. Open Access
      Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
      Markus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa

  2. Pender, Niall

    1. Open Access
      Determining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016
      Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman

  3. Perlman, Susan

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  4. Petty, Lauren E.

    1. Open Access
      Expanding the global prevalence of spinocerebellar ataxia type 42
      Kathie Ngo, Mamdouh Aker, Lauren E. Petty, Jason Chen, Francesca Cavalcanti, Alexandra B. Nelson, Sharon Hassin-Baer, Michael D. Geschwind, Susan Perlman, Domenico Italiano, Angelina Laganà, Sebastiano Cavallaro, Giovanni Coppola, Jennifer E. Below, Brent L. Fogel

  5. Pope, Kate

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

R

  1. Ryan, Marie

    1. Open Access
      Determining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016
      Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman

S

  1. Sainio, Markus T.

    1. Open Access
      Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
      Markus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa

  2. Scheffer, Ingrid E.

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  3. Scherer, Stephen W.

    1. Open Access
      Chorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencing
      Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian

  4. Sham, Pak Chung

    1. Open Access
      Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis
      John K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny

  5. Shanbhag, Niraj M.

    1. Open Access
      Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
      Niraj M. Shanbhag, Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, Laura J. Niedernhofer, May Christine V. Malicdan, Kenneth H. Kraemer, William A. Gahl, Camilo Toro

  6. Shen, Dongchao

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

  7. Shu, Shi

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

  8. Striano, Pasquale

    1. Open Access
      Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis–temporal lobe epilepsy
      Pasquale Striano, Carlo Nobile

T

  1. Tai, Hongfei

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

  2. Thiruvahindrapuram, Bhooma

    1. Open Access
      Chorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencing
      Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian

  3. Toro, Camilo

    1. Open Access
      Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
      Niraj M. Shanbhag, Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, Laura J. Niedernhofer, May Christine V. Malicdan, Kenneth H. Kraemer, William A. Gahl, Camilo Toro

  4. Tyynismaa, Henna

    1. Open Access
      Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
      Markus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa

U

  1. Uerlings, Ricarda

    1. Open Access
      Brain copper storage after genetic long-term correction in a mouse model of Wilson disease
      Ricarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen

  2. Ullah, Muhammed Ikram

    1. Open Access
      Chorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencing
      Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian

V

  1. Vajda, Alice

    1. Open Access
      Determining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016
      Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman

W

  1. Wade, Erin A.

    1. Open Access
      Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
      Niraj M. Shanbhag, Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, Laura J. Niedernhofer, May Christine V. Malicdan, Kenneth H. Kraemer, William A. Gahl, Camilo Toro

  2. Walker, Susan

    1. Open Access
      Chorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencing
      Susan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian

  3. Wang, Zhili

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

  4. Weiskirchen, Ralf

    1. Open Access
      Brain copper storage after genetic long-term correction in a mouse model of Wilson disease
      Ricarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen

  5. Wong, John K.L.

    1. Open Access
      Rare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosis
      John K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny

  6. Wood, Martin

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

Y

  1. Ye, Zimeng

    1. Open Access
      Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome
      Michael S. Hildebrand, A. Simon Harvey, Stephen Malone, John A. Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C. Jones, Greta Gillies, Kate Pope, Paul J. Lockhart, Alexander Dobrovic, Richard J. Leventer, Ingrid E. Scheffer, Samuel F. Berkovic

  2. Ylikallio, Emil

    1. Open Access
      Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
      Markus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa

  3. Yousefzadeh, Matthew J.

    1. Open Access
      Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
      Niraj M. Shanbhag, Michael D. Geschwind, John J. DiGiovanna, Catherine Groden, Rena Godfrey, Matthew J. Yousefzadeh, Erin A. Wade, Laura J. Niedernhofer, May Christine V. Malicdan, Kenneth H. Kraemer, William A. Gahl, Camilo Toro

Z

  1. Zhang, Kang

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui

  2. Zhang, Xue

    1. Open Access
      ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia
      Kang Zhang, Qing Liu, Keqiang Liu, Dongchao Shen, Hongfei Tai, Shi Shu, Qingyun Ding, Hanhui Fu, Shuangwu Liu, Zhili Wang, Xiaoguang Li, Mingsheng Liu, Xue Zhang, Liying Cui
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Neurology Genetics: 4 (3)
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