E-LIB Suche - Ergebnisse für: Estiar, Mehrdad A.

1

Genetic, structural and clinical analysis of spastic parapl..:

Varghaei, Parizad ; Estiar, Mehrdad A. ; Ashtiani, Setareh...
Parkinsonism & Related Disorders. 98 (2022) - p. 62-69 , 2022

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

2

BiP inactivation due to loss of the deAMPylation function o..:

Rebelo, Adriana P. ; Ruiz, Ariel ; Dohrn, Maike F....
Genetics in Medicine. 24 (2022) 12 - p. 2487-2500 , 2022

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

3

Genome-wide association study of REM sleep behavior disorde..:

Krohn, Lynne ; Heilbron, Karl ; Blauwendraat, Cornelis...
Nature Communications. 13 (2022) 1 - p. , 2022

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

4

RABENOSYN separation-of-function mutations uncouple endosom..:

Paul, Franziska ; Ng, Calista ; Mohamad Sahari, Umar Bin...
Human Molecular Genetics. 31 (2022) 21 - p. 3729-3740 , 2022

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

5

Hereditary Spastic Paraplegia: Clinicogenetic Lessons from ..:

Assaedi, Ekhlas ; Ashtiani, Setareh ; Estiar, Mehrdad A....
Neurology. 96 (2021) 15_supplement - p. , 2021

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

6

Hereditary spastic paraplegia initially diagnosed as cerebr..:

Suchowersky, Oksana ; Ashtiani, Setareh ; Au, Ping-Yee Billie...
Clinical Parkinsonism & Related Disorders. 5 (2021) - p. 100114 , 2021

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

7

Enrichment of SARM1 alleles encoding variants with constitu..:

Gilley, Jonathan ; Jackson, Oscar ; Pipis, Menelaos...
eLife. 10 (2021) - p. , 2021

Link: https://doi.org/10.7554/..

8

GCH1 mutations in hereditary spastic paraplegia:

Varghaei, Parizad ; Yoon, Grace ; Estiar, Mehrdad A....
Clinical Genetics. 100 (2021) 1 - p. 51-58 , 2021

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

9

Genetic and Epidemiological Study of Adult Ataxia and Spast..:

Haj Salem, Ikhlass ; Beaudin, Marie ; Stumpf, Monica...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 48 (2021) 5 - p. 655-665 , 2021

Link: https://doi.org/10.1017/..

10

Heterozygous De Novo KPNA3 Mutations Cause Complex Heredita..:

Estiar, Mehrdad A. ; Lail, Noor ; Dyment, David A....
Annals of Neurology. 91 (2021) 5 - p. 730-732 , 2021

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

11

Evidence for Non‐Mendelian Inheritance in Spastic Paraplegi..:

Estiar, Mehrdad A. ; Yu, Eric ; Haj Salem, Ikhlass...
Movement Disorders. 36 (2021) 7 - p. 1664-1675 , 2021

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

12

GCH1 Mutations in Hereditary Spastic Paraplegia (2100):

Varghaei, Parizad ; Yoon, Grace ; Estiar, Mehrdad A....
Neurology. 96 (2021) 15_supplement - p. , 2021

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

13

Fine mapping of the HLA locus in Parkinson's disease in Eur..:

Yu, Eric ; Ambati, Aditya ; Andersen, Maren Stolp...
npj Parkinson's Disease. 7 (2021) 1 - p. , 2021

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

14

Assessment of the role of non-coding RNAs in the pathophysi..:

Rezaei, Omidvar ; Nateghinia, Saeedeh ; Estiar, Mehrdad A...
European Journal of Pharmacology. 896 (2021) - p. 173914 , 2021

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

15

Lack of Causal Effects or Genetic Correlation between Restl..:

Estiar, Mehrdad A. ; Senkevich, Konstantin ; Yu, Eric...
Movement Disorders. 36 (2021) 8 - p. 1967-1972 , 2021

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