E-LIB Suche - Ergebnisse für: Muthusamy, Karthik

1

Neurological manifestations in PMM2-congenital disorders of..:

Muthusamy, Karthik ; Perez-Ortiz, Judit M. ; Ligezka, Anna N....
Genetics in Medicine. 26 (2024) 2 - p. 101027 , 2024

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

2

CSF1R-related disorder: State of the art, challenges, and p..:

Dulski, Jarosław ; Muthusamy, Karthik ; Lund, Troy C..
Parkinsonism & Related Disorders. 121 (2024) - p. 105894 , 2024

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

3

P185: Genome and exome sequencing to define cardiac phenoty..:

Figueiral, Marta ; Paldino, Alessia ; Wilke, Matheus...
Genetics in Medicine Open. 2 (2024) - p. 101082 , 2024

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

4

Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:

Happ, Hannah C. ; Sadleir, Lynette G. ; Zemel, Matthew...
Neurology. 100 (2023) 6 - p. , 2023

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

5

Adult-onset leukodystrophies: a practical guide, recent tre..:

Muthusamy, Karthik ; Sivadasan, Ajith ; Dixon, Luke...
Frontiers in Neurology. 14 (2023) - p. , 2023

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

6

Exploration of clinical and genetic findings in Ataxia-Tela..:

Das, Sweta ; Thomas, Maya ; Yoganathan, Sangeetha...
European Journal of Medical Genetics. 66 (2023) 6 - p. 104766 , 2023

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

7

Perirolandic sign and crossed cerebellar diaschisis in POLG..:

Sivadasan, Ajith ; Muthusamy, Karthik ; Umakant, SayliBidkar.
Annals of Indian Academy of Neurology. 25 (2022) 5 - p. 933 , 2022

Link: https://doi.org/10.4103/..

8

eP028: Neurological manifestations in PMM2 related congenit..:

Muthusamy, Karthik ; Ligezka, Anna ; Johnsen, Christin..
Genetics in Medicine. 24 (2022) 3 - p. S19 , 2022

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

9

Clustering of Juvenile Canavan disease in an Indian communi..:

Kotambail, Ananthapadmanabha ; Selvam, Pavalan ; Muthusamy, Karthik...
European Journal of Human Genetics. 31 (2022) 1 - p. 73-80 , 2022

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

10

The Assessment of Endovascular Therapies in Ischemic Stroke..:

Popiela, Tadeusz J. ; Krzyściak, Wirginia ; Pilato, Fabio...
Journal of Clinical Medicine. 11 (2022) 7 - p. 1864 , 2022

Link: https://doi.org/10.3390/..

11

Clinicoradiographic and genetic features of cerebral small ..:

Muthusamy, Karthik ; Ferrer, Alejandro ; Klee, Eric W...
Molecular Genetics & Genomic Medicine. 9 (2021) 10 - p. , 2021

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

12

Teaching NeuroImages: Neuroimaging Findings in Inosine Trip..:

Muthusamy, Karthik ; Boyer, Suzanne ; Patterson, Marc...
Neurology. 97 (2021) 1 - p. , 2021

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

13

Sorbitol Is a Severity Biomarker for PMM2‐CDG with Therapeu..:

Ligezka, Anna N. ; Radenkovic, Silvia ; Saraswat, Mayank...
Annals of Neurology. 90 (2021) 6 - p. 887-900 , 2021

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

14

Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas:

Muthusamy, Karthik ; Fasolino, John P. ; Driver‐Dunckley, Erika D..
Annals of Neurology. 89 (2021) 3 - p. 623-624 , 2021

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

15

Neurofibromatosis 1 in the setting of dual diagnosis: Diagn..:

Muthusamy, Karthik ; El‐Jabali, Aseel ; Ongie, Laura J...
American Journal of Medical Genetics Part A. 188 (2021) 3 - p. 911-918 , 2021

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