A
Ahmad, Arsalan
- Open AccessChorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencingSusan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian
Aker, Mamdouh
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Auranen, Mari
- Open AccessAbsence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa
B
Baum, Larry
- Open AccessRare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosisJohn K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny
Below, Jennifer E.
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Berkovic, Samuel F.
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Cavalcanti, Francesca
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Cavallaro, Sebastiano
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Chen, Jason
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Cherny, Stacey S.
- Open AccessRare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosisJohn K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny
Coppola, Giovanni
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Corr, Emma M.
- Open AccessDetermining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman
Cui, Liying
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Dad, Rubina
- Open AccessChorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencingSusan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian
Damiano, John A.
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Davis, Nicola
- Open AccessDetermining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman
DiGiovanna, John J.
- Open AccessNeurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj 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
Ding, Qingyun
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Do, Hongdo
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Dobrovic, Alexander
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Doherty, Mark A.
- Open AccessDetermining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman
F
Fogel, Brent L.
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Fu, Hanhui
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Gahl, William A.
- Open AccessNeurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj 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
Gazquez, Cristina
- Open AccessBrain copper storage after genetic long-term correction in a mouse model of Wilson diseaseRicarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen
Geschwind, Michael D.
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
- Open AccessNeurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj 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
Gillies, Greta
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Godfrey, Rena
- Open AccessNeurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj 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
González-Aseguinolaza, Gloria
- Open AccessBrain copper storage after genetic long-term correction in a mouse model of Wilson diseaseRicarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen
Groden, Catherine
- Open AccessNeurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj 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
Gui, Hongsheng
- Open AccessRare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosisJohn 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
Hardiman, Orla
- Open AccessDetermining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman
Harvey, A. Simon
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Hassan, Muhammad Jawad
- Open AccessChorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencingSusan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian
Hassin-Baer, Sharon
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Hernández-Alcoceba, Rubén
- Open AccessBrain copper storage after genetic long-term correction in a mouse model of Wilson diseaseRicarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen
Heverin, Mark
- Open AccessDetermining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman
Hildebrand, Michael S.
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Italiano, Domenico
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Jones, Nigel C.
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Kalnins, Renate
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Kraemer, Kenneth H.
- Open AccessNeurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj 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
Kwan, Patrick
- Open AccessRare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosisJohn K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny
Kwok, Maxwell
- Open AccessRare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosisJohn 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
Laganà, Angelina
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Lahtela, Jenni
- Open AccessAbsence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa
Leventer, Richard J.
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Li, Xiaoguang
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Liu, Keqiang
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Liu, Mingsheng
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Liu, Qing
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Liu, Shuangwu
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Lockhart, Paul J.
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Lui, Colin H.T.
- Open AccessRare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosisJohn 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
Mäenpää, Laura
- Open AccessAbsence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa
Maixner, Wirginia
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Malicdan, May Christine V.
- Open AccessNeurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj 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
Malone, Stephen
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Mattila, Pirkko
- Open AccessAbsence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa
McLaughlin, Russell
- Open AccessDetermining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman
McQuillan, Lara
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Minassian, Berge A.
- Open AccessChorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencingSusan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian
Moreno, Daniel
- Open AccessBrain copper storage after genetic long-term correction in a mouse model of Wilson diseaseRicarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen
Murillo, Oihana
- Open AccessBrain copper storage after genetic long-term correction in a mouse model of Wilson diseaseRicarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen
N
Nelson, Alexandra B.
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Ng, Ping Wing
- Open AccessRare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosisJohn K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny
Ngo, Kathie
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Niedernhofer, Laura J.
- Open AccessNeurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj 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
Nobile, Carlo
- Open AccessWhole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis–temporal lobe epilepsyPasquale Striano, Carlo Nobile
Nolan, Bernadette
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Ozturk, Ezgi
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Palmio, Johanna
- Open AccessAbsence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa
Pender, Niall
- Open AccessDetermining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman
Perlman, Susan
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Petty, Lauren E.
- Open AccessExpanding the global prevalence of spinocerebellar ataxia type 42Kathie 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
Pope, Kate
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Ryan, Marie
- Open AccessDetermining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman
S
Sainio, Markus T.
- Open AccessAbsence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa
Scheffer, Ingrid E.
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Scherer, Stephen W.
- Open AccessChorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencingSusan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian
Sham, Pak Chung
- Open AccessRare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosisJohn K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny
Shanbhag, Niraj M.
- Open AccessNeurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj 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
Shen, Dongchao
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Shu, Shi
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Striano, Pasquale
- Open AccessWhole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis–temporal lobe epilepsyPasquale Striano, Carlo Nobile
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Tai, Hongfei
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Thiruvahindrapuram, Bhooma
- Open AccessChorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencingSusan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian
Toro, Camilo
- Open AccessNeurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj 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
Tyynismaa, Henna
- Open AccessAbsence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa
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Uerlings, Ricarda
- Open AccessBrain copper storage after genetic long-term correction in a mouse model of Wilson diseaseRicarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen
Ullah, Muhammed Ikram
- Open AccessChorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencingSusan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian
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Vajda, Alice
- Open AccessDetermining the incidence of familiality in ALSA study of temporal trends in Ireland from 1994 to 2016Marie Ryan, Mark Heverin, Mark A. Doherty, Nicola Davis, Emma M. Corr, Alice Vajda, Niall Pender, Russell McLaughlin, Orla Hardiman
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Wade, Erin A.
- Open AccessNeurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj 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
Walker, Susan
- Open AccessChorea-acanthocytosisHomozygous 1-kb deletion in VPS13A detected by whole-genome sequencingSusan Walker, Rubina Dad, Bhooma Thiruvahindrapuram, Muhammed Ikram Ullah, Arsalan Ahmad, Muhammad Jawad Hassan, Stephen W. Scherer, Berge A. Minassian
Wang, Zhili
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Weiskirchen, Ralf
- Open AccessBrain copper storage after genetic long-term correction in a mouse model of Wilson diseaseRicarda Uerlings, Daniel Moreno, Oihana Murillo, Cristina Gazquez, Rubén Hernández-Alcoceba, Gloria González-Aseguinolaza, Ralf Weiskirchen
Wong, John K.L.
- Open AccessRare variants and de novo variants in mesial temporal lobe epilepsy with hippocampal sclerosisJohn K.L. Wong, Hongsheng Gui, Maxwell Kwok, Ping Wing Ng, Colin H.T. Lui, Larry Baum, Pak Chung Sham, Patrick Kwan, Stacey S. Cherny
Wood, Martin
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
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Ye, Zimeng
- Open AccessSomatic GNAQ mutation in the forme fruste of Sturge-Weber syndromeMichael 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
Ylikallio, Emil
- Open AccessAbsence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathyMarkus T. Sainio, Emil Ylikallio, Laura Mäenpää, Jenni Lahtela, Pirkko Mattila, Mari Auranen, Johanna Palmio, Henna Tyynismaa
Yousefzadeh, Matthew J.
- Open AccessNeurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group FNiraj 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
Zhang, Kang
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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
Zhang, Xue
- Open AccessANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementiaKang 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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