E-LIB Suche - Ergebnisse für: Rajan, Deepa S.

1

Nerve conduction velocity studies in infantile Krabbe disea..:

Rajan, Deepa S. ; Abdel-Hamid, Hoda ; Beltran-Quintero, Maria L....
Molecular Genetics and Metabolism. 141 (2024) 2 - p. 108011 , 2024

Link: https://doi.org/10.1016/..

2

Mutations of GEMIN5 are associated with coenzyme Q10 defici..:

Cascajo-Almenara, Marivi V. ; Juliá-Palacios, Natalia. ; Urreizti, Roser...
European Journal of Human Genetics. 32 (2024) 4 - p. 426-434 , 2024

Link: https://doi.org/10.1038/..

3

SMN regulates GEMIN5 expression and acts as a modifier of G..:

Fortuna, Tyler R. ; Kour, Sukhleen ; Chimata, Anuradha Venkatakrishnan...
Acta Neuropathologica. 146 (2023) 3 - p. 477-498 , 2023

Link: https://doi.org/10.1007/..

4

Child with Ataxia:

, In: Symptom-Based Approach to Pediatric Neurology,

Karmarkar, Swati A. ; Rajan, Deepa S. - p. 487-500 , 2022

Link: https://doi.org/10.1007/..

5

Functional and structural deficiencies of Gemin5 variants a..:

Francisco-Velilla, Rosario ; Embarc-Buh, Azman ; del Caño-Ochoa, Francisco...
Life Science Alliance. 5 (2022) 7 - p. e202201403 , 2022

Link: https://doi.org/10.26508..

6

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia i..:

Rajan, Deepa S. ; Kour, Sukhleen ; Fortuna, Tyler R....
Frontiers in Cell and Developmental Biology. 10 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

7

Child with Suspected Autism:

, In: Symptom-Based Approach to Pediatric Neurology,

Kim, Aram ; Rajan, Deepa S. - p. 47-65 , 2022

Link: https://doi.org/10.1007/..

8

Evolving therapies in neuronopathic LSDs: opportunities and..:

Rajan, Deepa S ; Escolar, Maria L
Metabolic Brain Disease. 37 (2022) 7 - p. 2245-2256 , 2022

Link: https://doi.org/10.1007/..

9

Genetic variation in genes of inborn errors of immunity in ..:

Malik, Devesh ; Simon, Dennis W. ; Thakkar, Kavita..
Genes & Immunity. 23 (2022) 7 - p. 235-239 , 2022

Link: https://doi.org/10.1038/..

10

Loss of function mutations in GEMIN5 cause a neurodevelopme..:

Kour, Sukhleen ; Rajan, Deepa S. ; Fortuna, Tyler R....
Nature Communications. 12 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

11

Adults with Cerebral Palsy Require Ongoing Neurologic Care:..:

Smith, Sarah E. ; Gannotti, Mary ; Hurvitz, Edward A....
Annals of Neurology. 89 (2021) 5 - p. 860-871 , 2021

Link: https://doi.org/10.1002/..

12

Survival of a male patient harboring CASK Arg27Ter mutation..:

Mukherjee, Konark ; Patel, Paras A. ; Rajan, Deepa S...
Molecular Genetics & Genomic Medicine. 8 (2020) 10 - p. , 2020

Link: https://doi.org/10.1002/..

13

Autism and developmental disability caused by KCNQ3 gain‐of..:

Sands, Tristan T. ; Miceli, Francesco ; Lesca, Gaetan...
Annals of Neurology. 86 (2019) 2 - p. 181-192 , 2019

Link: https://doi.org/10.1002/..

14

Corpus callosum lipoma:

Rajan, Deepa S. ; Popescu, Alexandra
Neurology. 78 (2012) 17 - p. 1366-1366 , 2012

Link: https://doi.org/10.1212/..

15

Child Neurology: Pompe disease: New horizons:

Rajan, Deepa S. ; Abdel-Hamid, Hoda
Neurology. 79 (2012) 23 - p. , 2012

Link: https://doi.org/10.1212/..