E-LIB Suche - Ergebnisse für: Gorcenco, Sorina

1

Exonic trinucleotide repeat expansions in ZFHX3 cause spino..:

Wallenius, Joel ; Kafantari, Efthymia ; Jhaveri, Emma...
The American Journal of Human Genetics. 111 (2024) 1 - p. 82-95 , 2024

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

2

Neurocognitive and cerebellar function in ADHD, autism and ..:

Cundari, Maurizio ; Vestberg, Susanna ; Gustafsson, Peik..
Frontiers in Systems Neuroscience. 17 (2023) - p. , 2023

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

3

Clinical and genetic analyses of a Swedish patient series d..:

Gorcenco, Sorina ; Kafantari, Efthymia ; Wallenius, Joel...
Journal of Neurology. 271 (2023) 1 - p. 526-542 , 2023

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

4

Tau and neurofilament light‐chain as fluid biomarkers in sp..:

Garcia‐Moreno, Hector ; Prudencio, Mercedes ; Thomas‐Black, Gilbert...
European Journal of Neurology. 29 (2022) 8 - p. 2439-2452 , 2022

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

5

Patients' Perspective in Hereditary Ataxia:

Gorcenco, Sorina ; Karremo, Christin ; Puschmann, Andreas
The Cerebellum. 23 (2022) 1 - p. 82-91 , 2022

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

6

New generation genetic testing entering the clinic:

Gorcenco, Sorina ; Ilinca, Andreea ; Almasoudi, Wejdan...
Parkinsonism & Related Disorders. 73 (2020) - p. 72-84 , 2020

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

7

Oral therapy for riboflavin transporter deficiency - What i..:

Gorcenco, Sorina ; Vaz, Frédéric M. ; Tracewska-Siemiatkowska, Anna...
Parkinsonism & Related Disorders. 61 (2019) - p. 245-247 , 2019

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

8

Exonic trinucleotide repeat expansions in ZFHX3 cause spino..:

Wallenius, Joel ; Kafantari, Efthymia ; Jhaveri, Emma...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10806739/. , 2024

Link: http://www.ncbi.nlm.nih...

9

Clinical and genetic analyses of a Swedish patient series d..:

Gorcenco, Sorina ; Kafantari, Efthymia ; Wallenius, Joel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10770240/. , 2023

Link: http://www.ncbi.nlm.nih...

10

Neurocognitive and cerebellar function in ADHD, autism and ..:

Cundari, Maurizio ; Vestberg, Susanna ; Gustafsson, Peik..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10321758/. , 2023

Link: http://www.ncbi.nlm.nih...

11

Clinical and genetic studies of patients and families with ..:

Gorcenco, Sorina
https://lup.lub.lu.se/record/a77df6b6-9631-498f-9c70-7eba51d3b098. , 2023

Link: https://lup.lub.lu.se/re..

12

Tau and neurofilament light-chain as fluid biomarkers in sp..:

Garcia-Moreno, Hector ; Prudencio, Mercedes ; Vasconcelos-Ferreira, Ana...
info:eu-repo/semantics/altIdentifier/issn/1471-0552. , 2022

Link: https://pub.dzne.de/reco..

13

Tau and neurofilament light-chain as fluid biomarkers in sp..:

Garcia-Moreno, Hector ; Prudencio, Mercedes ; Thomas-Black, Gilbert...
https://discovery.ucl.ac.uk/id/eprint/10147819/1/Euro%20J%20of%20Neurology%20-%202022%20-%20Garcia%E2%80%90Moreno%20-%20Tau%20and%20neurofilament%20light%E2%80%90chain%20as%20fluid%20biomarkers%20in%20spinocerebellar.pdf. , 2022

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

14

Toward allele-specific targeting therapy and pharmacodynami..:

Prudencio, Mercedes ; Garcia-Moreno, Hector ; Jansen-West, Karen R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927160/. , 2020

Link: http://www.ncbi.nlm.nih...

15

Ataxia-pancytopenia syndrome with SAMD9L mutations:

Gorcenco, Sorina ; Komulainen-Ebrahim, Jonna ; Nordborg, Karin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570676/. , 2017

Link: http://www.ncbi.nlm.nih...