关注
Praveen K Raju
Praveen K Raju
Postdoctoral Researcher, CHU Sainte-Justine Research Center, University of Montreal
在 umontreal.ca 的电子邮件经过验证
标题
引用次数
引用次数
年份
Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox …
X Jiang, PK Raju, N D'Avanzo, M Lachance, J Pepin, F Dubeau, ...
Epilepsia 60 (9), 1881-1894, 2019
842019
Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases
Y Murakami, TTM Nguyen, N Baratang, PK Raju, A Knaus, S Ellard, ...
The American Journal of Human Genetics 105 (2), 384-394, 2019
512019
Microtubule‐associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy
PK Raju, P Satishchandra, S Nayak, V Iyer, S Sinha, A Anand
Human mutation 38 (7), 816-826, 2017
122017
Both GEF domains of the autism and developmental epileptic encephalopathy-associated Trio protein are required for proper tangential migration of GABAergic interneurons
L Eid, L Lokmane, PK Raju, SB Tene Tadoum, X Jiang, K Toulouse, ...
Molecular Psychiatry, 1-21, 2024
2024
Both GEF domains of the autism and epilepsy-associated Trio protein are required for proper tangential migration of GABAergic interneurons
E Rossignol, L Eid, PK Raju, L Lokmane, SBT Tadoum, X Jiang, ...
2023
Both GEF domains of the autism and epilepsy-associated Trio protein are required for proper tangential migration of GABAergic interneurons
L Eid, L Lokmane, PK Raju, SBT Tadoum, X Jiang, K Toulouse, ...
bioRxiv, 2022.12. 31.522400, 2023
2023
EFHC2 variants in juvenile myoclonic epilepsy
SV Joshi, P Raju, P Satishchandra, S Sinha, S Nayak, A Anand
EUROPEAN JOURNAL OF HUMAN GENETICS 28 (SUPPL 1), 390-390, 2020
2020
PHACTRing in actin: actin deregulation in genetic epilepsies
L Eid, PK Raju, E Rossignol
Brain 141 (11), 3084-3088, 2018
2018
Defective microtubule organization due to novel EFHC1 mutations linked to juvenile myoclonic epilepsy.
PK Raju, S Nayak, P Satishchandra, K Radhakrishnan, A Anand
Epilepsia 54, 15-15, 2013
2013
I greatly appreciate the work of the authors whose work appears in this issue and the wide range of ideas that both the authors and reviewers have contributed. I hope you will …
PK Raju
系统目前无法执行此操作,请稍后再试。
文章 1–10