E-LIB Suche - Ergebnisse für: Kumar, Kishore, R

1

A recurrent missense variant in ITPR3 causes demyelinating ..:

Beijer, Danique ; Dohrn, Maike F ; Rebelo, Adriana...
Brain. , 2024

Link: https://doi.org/10.1093/..

2

Outcome measures for hereditary spastic paraplegia clinical..:

Siow, Sue Faye ; Waters, Amy ; Coward, Sharon...
Journal of the Neurological Sciences. 462 (2024) - p. 123100 , 2024

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

3

A deep intronic variant in MME causes autosomal recessive C..:

Grosz, Bianca R. ; Parmar, Jevin M. ; Ellis, Melina...
Journal of the Peripheral Nervous System. 29 (2024) 2 - p. 262-274 , 2024

Link: https://doi.org/10.1111/..

4

Omega-3 fatty acid supply in pregnancy for risk reduction o..:

Cetin, Irene ; Carlson, Susan E. ; Burden, Christy...
American Journal of Obstetrics & Gynecology MFM. 6 (2024) 2 - p. 101251 , 2024

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

5

An Inversion Affecting the GCH1 Gene as a Novel Finding in ..:

El‐Wahsh, Shadi ; Fellner, Avi ; Hobbs, Matthew...
Movement Disorders Clinical Practice. 11 (2024) 5 - p. 582-585 , 2024

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

6

Genetic Testing of Movements Disorders: A Review of Clinica..:

Yeow, Dennis ; Rudaks, Laura I. ; Siow, Sue-Faye..
Tremor and Other Hyperkinetic Movements. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.5334/..

7

Reduced acetylated α-tubulin in SPAST hereditary spastic pa..:

Wali, Gautam ; Siow, Sue-Faye ; Liyanage, Erandhi...
Frontiers in Neuroscience. 17 (2023) - p. , 2023

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

8

A biallelic variant of DCAF13 implicated in a neuromuscular..:

Manzoor, Humera ; Zahid, Hafsa ; Emerling, Christopher A....
European Journal of Human Genetics. 31 (2023) 6 - p. 629-637 , 2023

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

9

Two New Families and a Literature Review of ELOVL4-Associat..:

Nishide, Masahiro ; Le Marquand, Kathleen ; Davis, Mark R....
The Cerebellum. , 2023

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

10

An intronic GAA repeat expansion in FGF14 causes the autoso..:

Rafehi, Haloom ; Read, Justin ; Szmulewicz, David J....
The American Journal of Human Genetics. 110 (2023) 6 - p. 1018 , 2023

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

11

NOTCH2NLC GGC Repeat Expansion Presenting as Adult‐Onset Ce..:

Williams, Laura J. ; Qiu, Jessica ; Ong, Tien Lee...
Movement Disorders Clinical Practice. 10 (2023) 4 - p. 704-706 , 2023

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

12

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of..:

Harrer, Philip ; Škorvánek, Matej ; Kittke, Volker...
Movement Disorders. 38 (2023) 10 - p. 1914-1924 , 2023

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

13

Informing a value care model: lessons from an integrated ad..:

McLean, Alison ; Tchan, Michel ; Devery, Sophie...
Internal Medicine Journal. 53 (2023) 12 - p. 2198-2207 , 2023

Link: https://doi.org/10.1111/..

14

Author Correction: Elucidating causative gene variants in h..:

Lange, Lara M. ; Avenali, Micol ; Ellis, Melina...
npj Parkinson's Disease. 9 (2023) 1 - p. , 2023

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

15

Author Response: Use of Whole-Genome Sequencing for Mitocho..:

Davis, Ryan L. ; Kumar, Kishore R. ; Watson, Eloise C..
Neurology. 100 (2023) 1 - p. 50-50 , 2023

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