E-LIB Suche - Ergebnisse für: Kaiyrzhanov, Rauan

1

Validation of the Kazakh Version of the Movement Disorder S..:

Abdraimova, Saltanat ; Myrzayev, Zhanybek ; Karimova, Altynay...
Clinical Parkinsonism & Related Disorders. 10 (2024) - p. 100232 , 2024

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

2

Biallelic variants in SLC4A10 encoding a sodium-dependent b..:

Maroofian, Reza ; Zamani, Mina ; Kaiyrzhanov, Rauan...
Genetics in Medicine. 26 (2024) 3 - p. 101034 , 2024

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

3

Clinical and Molecular Spectrum of Autosomal Recessive CA8‐..:

Kaiyrzhanov, Rauan ; Ortigoza‐Escobar, Juan Darío ; Stringer, Brett W....
Movement Disorders. , 2024

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

4

Analysis of C9orf72 repeat expansions in Georgian patients ..:

Kekenadze, Mariam ; Rocca, Clarissa ; Turchetti, Valentina...
F1000Research. 12 (2024) - p. 1113 , 2024

Link: https://doi.org/10.12688..

5

Biallelic NAA60 variants with impaired N-terminal acetylati..:

Chelban, Viorica ; Aksnes, Henriette ; Maroofian, Reza...
Nature Communications. 15 (2024) 1 - p. , 2024

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

6

Mitochondrial Complex I Deficiency Associated with Bialleli..:

Kaiyrzhanov, Rauan ; NDUFA13 Study Group
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

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

7

Missense variants in RPH3A cause defects in excitatory syna..:

Pavinato, Lisa ; Stanic, Jennifer ; Barzasi, Marta...
Genetics in Medicine. 25 (2023) 11 - p. 100922 , 2023

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

8

Brain monoamine vesicular transport disease caused by homoz..:

Saida, Ken ; Maroofian, Reza ; Sengoku, Toru...
Genetics in Medicine. 25 (2023) 1 - p. 90-102 , 2023

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

9

Analysis of C9orf72 repeat expansions in Georgian patients ..:

Kekenadze, Mariam ; Rocca, Clarissa ; Turchetti, Valentina...
F1000Research. 12 (2023) - p. 1113 , 2023

Link: https://doi.org/10.12688..

10

Bi-allelic ACBD6 variants lead to a neurodevelopmental synd..:

Kaiyrzhanov, Rauan ; Rad, Aboulfazl ; Lin, Sheng-Jia...
Brain. 147 (2023) 4 - p. 1436-1456 , 2023

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

11

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
Brain. 146 (2023) 12 - p. 5031-5043 , 2023

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

12

Phenotypic continuum of NFU1‐related disorders:

Kaiyrzhanov, Rauan ; Zaki, Maha S. ; Lau, Tracy...
Annals of Clinical and Translational Neurology. 9 (2022) 12 - p. 2025-2035 , 2022

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

13

AP4B1-associated hereditary spastic paraplegia: Expansion o..:

Salayev, Kamran ; Rocca, Clarissa ; Kaiyrzhanov, Rauan...
European Journal of Medical Genetics. 65 (2022) 11 - p. 104620 , 2022

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

14

GGPS1‐associated muscular dystrophy with and without hearin..:

Kaiyrzhanov, Rauan ; Perry, Luke ; Rocca, Clarissa...
Annals of Clinical and Translational Neurology. 9 (2022) 9 - p. 1465-1474 , 2022

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

15

Bi-allelic LETM1 variants perturb mitochondrial cation home..:

Mohammed, Sami E.M. ; Kaiyrzhanov, Rauan ; Maroofian, Reza...
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1863 (2022) - p. 148859 , 2022

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