Suchergebnisse - "Raju, Praveen K"

PubPharm (7)

1

Both GEF domains of the autism and epilepsy-associated Trio protein are required for proper tangential migration of GABAergic interneurons

enthalten in: bioRxiv.org | 2023

von Eid, L. | Lokmane, L. | Raju, P. | +13

2

Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome

enthalten in: Epilepsia | 2019

von Jiang, X. | Raju, P. | D'Avanzo, N. | +9

3

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

enthalten in: American journal of human genetics | 2019

von Murakami, Y. | Nguyen, T. | Baratang, N. | +42

4

Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome

enthalten in: Epilepsia | 2019

von Jiang, X. | Raju, P. | D'Avanzo, N. | +9

5

PHACTRing in actin : actin deregulation in genetic epilepsies

enthalten in: Brain : a journal of neurology | 2018

von Eid, L. | Raju, P. | Rossignol, E.

CommentOn: Brain. 2018 Nov 1;141(11):3098-3114. - PMID 30256902

6

Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy

enthalten in: Human mutation | 2017

von Raju, P. | Satishchandra, P. | Nayak, S. | +3

7

Microtubule‐associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy

enthalten in: Human mutation | 2017

von Raju, P. | Satishchandra, P. | Nayak, S. | +3

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