A
Abbink, Truus E.M.
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Aiello, Chiara
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Al-Ouran, Rami
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Alfradique-Dunham, Isabel
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Alvarez, Karin
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Ances, Beau M.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
B
Bakulski, Kelly M.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Barkovich, A. James
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Barnes, Lisa L.
- Open AccessInteractive Effects of HLA and GM Alleles on the Development of Alzheimer DiseaseJanardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett
Barsottini, Orlando G.
- Open AccessPRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in WomenFlávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum
Bellacchio, Emanuele
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Bello-Espinosa, Lourdes
- Open AccessErythromelalgia: A Child With V400M Mutation in the SCN9A GeneChineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler
Benke, Kelly S.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Bennett, David A.
- Open AccessInteractive Effects of HLA and GM Alleles on the Development of Alzheimer DiseaseJanardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett
Benzinger, Tammie L.S.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Bertini, Enrico S.
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Blauwendraat, Cornelis
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Bulancea, Sabrina
- Open AccessErythromelalgia: A Child With V400M Mutation in the SCN9A GeneChineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler
C
Castiglioni, Claudia
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Chow, Gabriel
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Cruchaga, Carlos
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
D
Dallabona, Cristina
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Deming, Yuetiva
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
de Wit, Marie Claire Y.
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Dietrich, Pierre-Yves
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
Dobyns, William B.
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Dremmen, Marjolein H.G.
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Dutoit, Valerie
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
E
Erasmus, Corrie E.
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
F
Fagan, Anne M.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Farias, Fabiana H.G.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Faul, Jessica D.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Figuccia, Sonia
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
G
Gao, Dadi
- Open AccessExpanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Goffrini, Paola
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Grosset, Donald
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
H
Heeringa, Steven G.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Henson, Rachel L.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Hernandez, Dena
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Hill, Emily
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Holtzman, David M.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Hughes, Sarah
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
J
Jankovic, Joseph
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Joseph, Amulya
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
K
Kardia, Sharon L.R.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Kaufmann, Horacio
- Open AccessExpanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Kaw, Anita
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Kothera, Ronald T.
- Open AccessInteractive Effects of HLA and GM Alleles on the Development of Alzheimer DiseaseJanardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett
L
Langa, Kenneth M.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Lebon, Sebastien
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Liao, Calwing
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Liu, Zhandong
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Lleó, Alberto
Llibre-Guerra, Jorge J.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Lobrinus, Johannes Alexander
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
Luo, Lan
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
M
Mancini, Grazia M.S.
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Manly, Jennifer J.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Marchidann, Adrian
- Open AccessErythromelalgia: A Child With V400M Mutation in the SCN9A GeneChineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler
Marinari, Eliana
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
McCue, Lena
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Migliorini, Denis
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
Mikesell, Robert J.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Mitchell, Colter M.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Morris, Huw
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Morris, John C.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Moulder, Krista L.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
N
Nalls, Mike
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Nietert, Paul J.
- Open AccessInteractive Effects of HLA and GM Alleles on the Development of Alzheimer DiseaseJanardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett
Nikolaev, Sergey
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
Norcliffe-Kaufmann, Lucy
- Open AccessExpanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Nwebube, Chineze
- Open AccessErythromelalgia: A Child With V400M Mutation in the SCN9A GeneChineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler
O
Okuma, Cecilia
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
P
Palma, Jose-Alberto
- Open AccessExpanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Palma, Mariana M.
- Open AccessPRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in WomenFlávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum
Pandey, Janardan P.
- Open AccessInteractive Effects of HLA and GM Alleles on the Development of Alzheimer DiseaseJanardan P. Pandey, Paul J. Nietert, Ronald T. Kothera, Lisa L. Barnes, David A. Bennett
Pedroso, José Luiz
- Open AccessPRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in WomenFlávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum
Piccio, Laura
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Pihlstrom, Lasse
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
R
Rahikkala, Elisa
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Rezende Filho, Flávio M.
- Open AccessPRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in WomenFlávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum
Rouleau, Guy A.
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
S
Sallum, Juliana M.
- Open AccessPRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in WomenFlávio M. Rezende Filho, Mariana M. Palma, José Luiz Pedroso, Orlando G. Barsottini, Juliana M. Sallum
Sanchez‐Valle, Amarilis
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Schaller, Karl
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
Schindler, Suzanne E.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Schmitt-Mechelke, Thomas
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Schot, Rachel
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Shulman, Joshua M.
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Shulman, Lisa M.
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Singleton, Andrew B.
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Slaugenhaupt, Susan
- Open AccessExpanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Smith, Jennifer A.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Smits, Daphne J.
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Stellingwerff, Menno D.
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Stillwell, Amanda
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Stutterd, Chloe A.
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Suárez-Calvet, Marc
T
Tan, Manuela
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
Topaloglu, Pinar
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
Treidler, Simona
- Open AccessErythromelalgia: A Child With V400M Mutation in the SCN9A GeneChineze Nwebube, Sabrina Bulancea, Adrian Marchidann, Lourdes Bello-Espinosa, Simona Treidler
Tsantoulis, Petros
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
V
Vadari, Harita S.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Van der Knaap, Marjo S.
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
van Slegtenhorst, Marjon
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Vargas, Maria-Isabel
- Open AccessClonal Evolution of a High-Grade Pediatric Glioma With Distant Metastatic SpreadEliana Marinari, Valerie Dutoit, Sergey Nikolaev, Maria-Isabel Vargas, Karl Schaller, Johannes Alexander Lobrinus, Pierre-Yves Dietrich, Petros Tsantoulis, Denis Migliorini
Vasco, Gessica
- Open AccessLBSLCase Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D. Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, Karin Alvarez, Claudia Castiglioni, Pinar Topaloglu, Chloe A. Stutterd, Corrie E. Erasmus, Amarilis Sanchez‐Valle, Sebastien Lebon, Sarah Hughes, Thomas Schmitt-Mechelke, Gessica Vasco, Gabriel Chow, Elisa Rahikkala, Cristina Dallabona, Cecilia Okuma, Chiara Aiello, Paola Goffrini, Truus E.M. Abbink, Enrico S. Bertini, Marjo S. Van der Knaap
von Coelln, Rainer
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
W
Ware, Erin B.
- Open AccessCumulative Genetic Risk and APOE ε4 Are Independently Associated With Dementia Status in a Multiethnic, Population-Based CohortKelly M. Bakulski, Harita S. Vadari, Jessica D. Faul, Steven G. Heeringa, Sharon L.R. Kardia, Kenneth M. Langa, Jennifer A. Smith, Jennifer J. Manly, Colter M. Mitchell, Kelly S. Benke, Erin B. Ware
Wilke, Martina
- Open AccessBiallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar HypoplasiaDaphne J. Smits, Rachel Schot, Martina Wilke, Marjon van Slegtenhorst, Marie Claire Y. de Wit, Marjolein H.G. Dremmen, William B. Dobyns, A. James Barkovich, Grazia M.S. Mancini
Wilkins, Consuelo H.
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
X
Xiong, Chengjie
- Open AccessAfrican Americans Have Differences in CSF Soluble TREM2 and Associated Genetic VariantsSuzanne E. Schindler, Carlos Cruchaga, Amulya Joseph, Lena McCue, Fabiana H.G. Farias, Consuelo H. Wilkins, Yuetiva Deming, Rachel L. Henson, Robert J. Mikesell, Laura Piccio, Jorge J. Llibre-Guerra, Krista L. Moulder, Anne M. Fagan, Beau M. Ances, Tammie L.S. Benzinger, Chengjie Xiong, David M. Holtzman, John C. Morris
Y
Yadav, Rachita
- Open AccessExpanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome SequencingJose-Alberto Palma, Rachita Yadav, Dadi Gao, Lucy Norcliffe-Kaufmann, Susan Slaugenhaupt, Horacio Kaufmann
Young, Emily
- Open AccessGenome-Wide Association Study Meta-Analysis for Parkinson Disease Motor SubtypesIsabel Alfradique-Dunham, Rami Al-Ouran, Rainer von Coelln, Cornelis Blauwendraat, Emily Hill, Lan Luo, Amanda Stillwell, Emily Young, Anita Kaw, Manuela Tan, Calwing Liao, Dena Hernandez, Lasse Pihlstrom, Donald Grosset, Lisa M. Shulman, Zhandong Liu, Guy A. Rouleau, Mike Nalls, Andrew B. Singleton, Huw Morris, Joseph Jankovic, Joshua M. Shulman
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