E-LIB Suche - Ergebnisse für: Bourinaris, T

1

Allelic and phenotypic heterogeneity in Junctophillin-3 rel..:

Bourinaris, T ; Athanasiou, A ; Efthymiou, S...
https://discovery.ucl.ac.uk/id/eprint/10125864/6/Efthymiou_s41431-021-00866-1.pdf. , 2021

Link: https://discovery.ucl.ac..

2

Spastic paraplegia preceding PSEN1-related familial Alzheim..:

Chelban, V ; Breza, M ; Szaruga, M...
https://discovery.ucl.ac.uk/id/eprint/10127991/1/dad2.12186.pdf. , 2021

Link: https://discovery.ucl.ac..

3

Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakis..:

Bibi, F ; Ullah, A ; Bourinaris, T...
https://discovery.ucl.ac.uk/id/eprint/10128343/3/Efthymiou_Tay%20sachs%20Disease%20Two%20novel%20rare%20Hexa%20mutations%20from%20Pakistan%20and%20Morocco.pdf. , 2021

Link: https://discovery.ucl.ac..

4

SORL1 mutation in a Greek family with Parkinson's disease a..:

Xiromerisiou, G ; Bourinaris, T ; Houlden, H...
https://discovery.ucl.ac.uk/id/eprint/10134756/1/acn3.51433.pdf. , 2021

Link: https://discovery.ucl.ac..

5

A homozygous GDAP2 loss-of-function variant in a patient wi..:

Efthymiou, S ; Breza, M ; Bourinaris, T...
https://discovery.ucl.ac.uk/id/eprint/10094640/3/Efthymiou_A%20homozygous%20GDAP2%20loss-of-function%20variant%20in%20a%20patient%20with%20adult-onset%20cerebellar%20ataxia_AAM.pdf. , 2020

Link: https://discovery.ucl.ac..

6

Prevalence of C9orf72 hexanucleotide repeat expansion in Gr..:

Sokratous, M ; Lucia, S ; Bourinaris, T...
https://discovery.ucl.ac.uk/id/eprint/10107077/9/Houlden_c9orf72%20in%20ALS_revised%20manuscript_all%20changes%20accepted.pdf. , 2020

Link: https://discovery.ucl.ac..

7

Neuronal intranuclear inclusion disease is genetically hete..:

Chen, Z ; Yan Yau, W ; Jaunmuktane, Z...
https://discovery.ucl.ac.uk/id/eprint/10107648/7/Chen_Ann%20Clin%20Transl%20Neurol%20-%202020%20-%20Chen%20-%20Neuronal%20intranuclear%20inclusion%20disease%20is%20genetically%20heterogeneous.pdf. , 2020

Link: https://discovery.ucl.ac..

8

Identification of common genetic markers of paroxysmal neur..:

Ilyas, M ; Salpietro, V ; Efthymiou, S...
https://discovery.ucl.ac.uk/id/eprint/10094725/3/Efthymiou_Identification%20of%20common%20genetic%20markers%20of%20paroxysmal%20neurological%20disorders%20using%20a%20network%20analysis%20approach_AAM.pdf. , 2020

Link: https://discovery.ucl.ac..

9

Rare novel CYP2U1 and ZFYVE26 variants identified in two Pa..:

Bibi, F ; Efthymiou, S ; Bourinaris, T...
https://discovery.ucl.ac.uk/id/eprint/10094647/3/Efthymiou_Rare%20novel%20CYP2U1%20and%20ZFYVE26%20variants%20_revised_TB_15.12.2019clean.pdf. , 2020

Link: https://discovery.ucl.ac..

10

Identification of UBAP1 mutations in juvenile hereditary sp..:

Bourinaris, T ; Smedley, D ; Cipriani, V...
https://discovery.ucl.ac.uk/id/eprint/10110528/8/Houlden_s41431-020-00720-w.pdf. , 2020

Link: https://discovery.ucl.ac..

11

Neuronal intranuclear inclusion disease is genetically hete..:

Chen, Z ; Yau, WY ; Jaunmuktane, Z...
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY. , 2020

Link: https://qmro.qmul.ac.uk/..

12

Identification of common genetic markers of paroxysmal neur..:

Ilyas M ; Vincenzo Salpietro ; Efthymiou S...
info:eu-repo/semantics/altIdentifier/pmid/31808001. , 2020

Link: https://hdl.handle.net/1..

13

PDXK mutations cause polyneuropathy responsive to pyridoxal..:

Chelban V ; Wilson M. P ; Warman Chardon J...
info:eu-repo/semantics/altIdentifier/pmid/31187503. , 2019

Link: http://hdl.handle.net/10..

14

AMPA receptor GluA2 subunit defects are a cause of neurodev..:

Salpietro V ; Dixon CL ; Guo H...
info:eu-repo/semantics/altIdentifier/pmid/31300657. , 2019

Link: http://hdl.handle.net/11..

15

PDXK mutations cause polyneuropathy responsive to pyridoxal..:

Chelban V(1)(2) ; Wilson MP(3) ; Warman Chardon J(4)(5)(6)...
info:eu-repo/semantics/altIdentifier/pmid/31187503. , 2019

Link: http://hdl.handle.net/11..