E-LIB Suche - Ergebnisse für: Polke, JM

1

Enhanced mitochondrial genome analysis: bioinformatic and l..:

Macken, WL ; Falabella, M ; Pizzamiglio, C...
https://discovery.ucl.ac.uk/id/eprint/10176202/1/Falabella_Enhanced%20mitochondrial%20genome%20analysis_VoR.pdf. , 2023

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

2

Interruptions of the FXN GAA Repeat Tract Delay the Age at ..:

Nethisinghe, S ; Kesavan, M ; Ging, H...
https://discovery.ucl.ac.uk/id/eprint/10132292/1/ijms-22-07507-v2.pdf. , 2021

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

3

Charcot-Marie-Tooth disease type 2CC due to NEFH variants c..:

Pipis, M ; Cortese, A ; Polke, JM...
https://discovery.ucl.ac.uk/id/eprint/10134423/1/jnnp-2021-327186.full.pdf. , 2021

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

4

Elevated 4R-tau in astrocytes from asymptomatic carriers of..:

Seto-Salvia, N ; Esteras, N ; de Silva, R...
https://discovery.ucl.ac.uk/id/eprint/10140975/1/J%20Cellular%20Molecular%20Medi%20-%202021%20-%20Set%20%E2%80%90Salvia%20-%20Elevated%204R%E2%80%90tau%20in%20astrocytes%20from%20asymptomatic%20carriers%20of%20the%20MAPT%2010%2016.pdf. , 2021

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

5

A clinical, molecular genetics and pathological study of a ..:

Olszewska, DA ; Fearon, C ; McGuigan, C...
https://discovery.ucl.ac.uk/id/eprint/10128753/8/de%20Silva_1-s2.0-S0197458021001718-main.pdf. , 2021

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

6

Natural history of Charcot-Marie-Tooth disease type 2A: a l..:

Pipis, M ; Feely, SME ; Polke, JM...
https://discovery.ucl.ac.uk/id/eprint/10119027/1/awaa323.pdf. , 2021

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

7

A clinical, molecular genetics and pathological study of a ..:

Olszewska, DA ; Fearon, C ; McGuigan, C...
Neurobiology of Aging, 2021. , 2021

Link: https://repository.icr.a..

8

Plasma amyloid-β ratios in autosomal dominant Alzheimer's d..:

O'Connor, A ; Pannee, J ; Poole, T...
https://discovery.ucl.ac.uk/id/eprint/10131684/1/awab166.pdf. , 2021

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

9

A novel presenilin 1 duplication mutation (Ile168dup) causi..:

O'Connor, A ; Abel, E ; Fraser, MR...
https://discovery.ucl.ac.uk/id/eprint/10123549/3/Mead_A%20novel%20presenilin%201%20duplication%20mutation%20%28Ile168dup%29%20causing%20Alzheimer%27s%20disease%20associated%20with%20myoclonus,%20seizures%20and%20pyramidal%20features_AAM.pdf. , 2021

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

10

Predictors for a dementia gene mutation based on gene-panel..:

Koriath, C ; Kenny, J ; Druyeh, R...
https://www.repository.cam.ac.uk/handle/1810/283046. , 2020

Link: https://www.repository.c..

11

Plasma phospho-tau181 in presymptomatic and symptomatic fam..:

O'Connor, A ; Karikari, TK ; Poole, T...
https://discovery.ucl.ac.uk/id/eprint/10107467/1/Plasma%20p-tau181_revision_openaccess.pdf. , 2020

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

12

A novel homozygous variant extending the peripheral myelin ..:

Zambon, AA ; Pitt, M ; Laurà, M...
https://discovery.ucl.ac.uk/id/eprint/10097824/1/Laura_jns.12386.pdf. , 2020

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

13

Autosomal dominant optic atrophy and cataract "plus" phenot..:

Horga, A ; Bugiardini, E ; Manole, A...
https://discovery.ucl.ac.uk/id/eprint/10074939/8/Brandner_Autosomal%20dominant%20optic%20atrophy%20and%20cataract%20plus%20phenotype%20including%20axonal%20neuropathy_VoR.pdf. , 2019

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

14

Targeted next-generation sequencing panels in the diagnosis..:

Cortese, A ; Wilcox, JE ; Polke, JM...
https://discovery.ucl.ac.uk/id/eprint/10088139/1/Cortese_Targeted%20next-generation%20sequencing%20panels%20in%20the%20diagnosis%20of%20Charcot-Marie-Tooth%20disease_VoR.pdf. , 2019

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

15

Autosomal dominant optic atrophy and cataract "plus" phenot..:

Horga, A ; Bugiardini, E ; Manole, A...
https://researchonline.ljmu.ac.uk/id/eprint/11033/1/alex.pdf. , 2019

Link: http://researchonline.lj..