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April 2023; 9 (2)

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B

  1. Berweck, Steffen

    1. Open Access
      New-Onset Refractory Status Epilepticus Due to a Novel MT-TF VariantTime for Acute Genetic Testing Before Treatment?
      Elisabetta Indelicato, Johannes Pfeilstetter, Michael Zech, Iris Unterberger, Julia Wanschitz, Steffen Berweck, Sylvia Boesch

  2. Biella, Fabio

    1. Open Access
      Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
      Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

  3. Boesch, Sylvia

    1. Open Access
      New-Onset Refractory Status Epilepticus Due to a Novel MT-TF VariantTime for Acute Genetic Testing Before Treatment?
      Elisabetta Indelicato, Johannes Pfeilstetter, Michael Zech, Iris Unterberger, Julia Wanschitz, Steffen Berweck, Sylvia Boesch

  4. Brescia, Gloria

    1. Open Access
      Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
      Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

  5. Bulgheroni, Sara

    1. Open Access
      Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
      Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo

C

  1. Canafoglia, Laura

    1. Open Access
      Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
      Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo

  2. Chen, Bin

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  3. Chen, Wei'an

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  4. Chiapparini, Luisa

    1. Open Access
      Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
      Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo

  5. Chintalaphani, Sanjog R.

    1. Open Access
      Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
      Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft

  6. Ciaccio, Claudia

    1. Open Access
      Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
      Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo

  7. Comi, Giacomo P.

    1. Open Access
      Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
      Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

D

  1. D'Arrigo, Stefano

    1. Open Access
      Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
      Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo

  2. Deveson, Ira W.

    1. Open Access
      Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
      Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft

  3. Di Fonzo, Alessio

    1. Open Access
      Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
      Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

  4. Dong, Gehong

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

E

  1. Emmanuele, Valentina

    1. Open Access
      Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
      Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

F

  1. Folland, Chiara

    1. Open Access
      Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
      Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft

G

  1. Ganesh, Vijay

    1. Open Access
      Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
      Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft

  2. Guo, Sheng

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

H

  1. Hirano, Michio

    1. Open Access
      Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
      Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

  2. Huang, Ming

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

I

  1. Indelicato, Elisabetta

    1. Open Access
      New-Onset Refractory Status Epilepticus Due to a Novel MT-TF VariantTime for Acute Genetic Testing Before Treatment?
      Elisabetta Indelicato, Johannes Pfeilstetter, Michael Zech, Iris Unterberger, Julia Wanschitz, Steffen Berweck, Sylvia Boesch

K

  1. Kennedy, Paul

    1. Open Access
      Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
      Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft

  2. Kornberg, Andrew J.

    1. Open Access
      Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
      Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft

L

  1. Li, Kai

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  2. Li, Mingxia

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  3. Li, Wei

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang
    2. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  4. Liang, Hui

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  5. Liu, Shaocheng

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  6. Liu, Xiaoyun

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  7. Lopez, Luis Carlos

    1. Open Access
      Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
      Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

M

  1. McLean, Catriona

    1. Open Access
      Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
      Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft

  2. Monfrini, Edoardo

    1. Open Access
      Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
      Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

  3. Moscatelli, Marco

    1. Open Access
      Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
      Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo

N

  1. Nigro, Vincenzo

    1. Open Access
      Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
      Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo

  2. Niu, Songtao

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

O

  1. O'Donnell-Luria, Anne

    1. Open Access
      Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
      Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft

P

  1. Pan, Hua

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  2. Pan, Yunzhu

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  3. Pantaleoni, Chiara

    1. Open Access
      Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
      Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo

  4. Pesini, Alba

    1. Open Access
      Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
      Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

  5. Pfeilstetter, Johannes

    1. Open Access
      New-Onset Refractory Status Epilepticus Due to a Novel MT-TF VariantTime for Acute Genetic Testing Before Treatment?
      Elisabetta Indelicato, Johannes Pfeilstetter, Michael Zech, Iris Unterberger, Julia Wanschitz, Steffen Berweck, Sylvia Boesch

Q

  1. Quinzii, Catarina Maria

    1. Open Access
      Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
      Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

R

  1. Ravenscroft, Gianina

    1. Open Access
      Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
      Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft

  2. Rehm, Heidi L.

    1. Open Access
      Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
      Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft

S

  1. Sciacca, Francesca

    1. Open Access
      Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
      Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo

  2. Sobreira, Claudia F.R.

    1. Open Access
      Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
      Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

  3. Stevanovski, Igor

    1. Open Access
      Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
      Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft

T

  1. Tadesse, Saba

    1. Open Access
      Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency
      Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo

  2. Tai, Hongfei

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

U

  1. Unterberger, Iris

    1. Open Access
      New-Onset Refractory Status Epilepticus Due to a Novel MT-TF VariantTime for Acute Genetic Testing Before Treatment?
      Elisabetta Indelicato, Johannes Pfeilstetter, Michael Zech, Iris Unterberger, Julia Wanschitz, Steffen Berweck, Sylvia Boesch

V

  1. Valente, Enza Maria

    1. Open Access
      Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
      Claudia Ciaccio, Chiara Pantaleoni, Marco Moscatelli, Luisa Chiapparini, Vincenzo Nigro, Enza Maria Valente, Francesca Sciacca, Laura Canafoglia, Sara Bulgheroni, Stefano D'Arrigo

W

  1. Wang, An

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  2. Wang, Mengwen

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  3. Wang, Xingao

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  4. Wanschitz, Julia

    1. Open Access
      New-Onset Refractory Status Epilepticus Due to a Novel MT-TF VariantTime for Acute Genetic Testing Before Treatment?
      Elisabetta Indelicato, Johannes Pfeilstetter, Michael Zech, Iris Unterberger, Julia Wanschitz, Steffen Berweck, Sylvia Boesch

  5. Weisburd, Ben

    1. Open Access
      Transcriptome and Genome Analysis Uncovers a DMD Structural VariantA Case Report
      Chiara Folland, Vijay Ganesh, Ben Weisburd, Catriona McLean, Andrew J. Kornberg, Anne O'Donnell-Luria, Heidi L. Rehm, Igor Stevanovski, Sanjog R. Chintalaphani, Paul Kennedy, Ira W. Deveson, Gianina Ravenscroft

  6. Wu, Guode

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

Z

  1. Zech, Michael

    1. Open Access
      New-Onset Refractory Status Epilepticus Due to a Novel MT-TF VariantTime for Acute Genetic Testing Before Treatment?
      Elisabetta Indelicato, Johannes Pfeilstetter, Michael Zech, Iris Unterberger, Julia Wanschitz, Steffen Berweck, Sylvia Boesch

  2. Zhang, Ying

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  3. Zhang, Yumei

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  4. Zhang, Zaiqiang

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang

  5. Zhao, Guixian

    1. Open Access
      Clinical Features and Classification of Neuronal Intranuclear Inclusion Disease
      Hongfei Tai, An Wang, Yumei Zhang, Shaocheng Liu, Yunzhu Pan, Kai Li, Guixian Zhao, Mengwen Wang, Guode Wu, Songtao Niu, Hua Pan, Bin Chen, Wei Li, Xingao Wang, Gehong Dong, Wei Li, Ying Zhang, Sheng Guo, Xiaoyun Liu, Mingxia Li, Hui Liang, Ming Huang, Wei'an Chen, Zaiqiang Zhang
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Neurology Genetics: 9 (2)
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