E-LIB Suche - Ergebnisse für: Polke, J.

1

Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion ..:

Chen, Z ; Gustavsson, EK ; Macpherson, H...
https://discovery.ucl.ac.uk/id/eprint/10185508/1/Chen_Movement%20Disorders%20-Adaptive%20Long%E2%80%90Read%20Sequencing%20Reveals%20.pdf. , 2024

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

2

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropath..:

Ronco, R ; Perini, C ; Curro, R...
NEUROLOGY. , 2023

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

3

Unexpected frequency of the pathogenic AR CAG repeat expans..:

Zanovello, M ; Ibanez, K ; Brown, A-L...
BRAIN. , 2023

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

4

Whole-genome sequencing:

Morris, HR ; Houlden, H ; Polke, J
https://discovery.ucl.ac.uk/id/eprint/10128717/1/2021_02_23_PN_WGS_FInal.pdf. , 2021

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

5

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health C..:

100, 000 Genomes Project Pilot Investigators ; Smedley, D ; Smith, KR...
https://discovery.ucl.ac.uk/id/eprint/10138417/1/nejmoa2035790.pdf. , 2021

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

6

Cerebellar ataxia, neuropathy, vestibular areflexia syndrom..:

Cortese, A ; Tozza, S ; Yau, WY...
https://discovery.ucl.ac.uk/id/eprint/10091785/1/awz418.pdf. , 2020

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

7

NfL and pNfH are increased in Friedreich's ataxia:

Hayer, SN ; Liepelt, I ; Barro, C...
https://discovery.ucl.ac.uk/id/eprint/10092217/1/Abeti__Article_NfLAndPNfHAreIncreasedInFriedr.pdf. , 2020

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

8

Toward allele-specific targeting therapy and pharmacodynami..:

Prudencio, M ; Garcia-Moreno, H ; Jansen-West, KR...
https://discovery.ucl.ac.uk/id/eprint/10113896/1/abb7086_CombinedPDF_v3.pdf. , 2020

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

9

Biallelic expansion of an intronic repeat in RFC1 is a comm..:

Cortese A ; Simone R ; Sullivan R...
info:eu-repo/semantics/altIdentifier/pmid/30926972. , 2019

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

10

Biallelic expansion of an intronic repeat in RFC1 is a comm..:

Cortese, A ; Simone, R ; Sullivan, R...
https://discovery.ucl.ac.uk/id/eprint/10078946/3/Cortese_Biallelic%20expansion%20of%20an%20intronic%20repeat%20in%20RFC1%20is%20a%20common%20cause%20of%20late-onset%20ataxia_AAM.pdf. , 2019

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

11

Mutations in noncoding regions of GJB1 are a major cause of..:

Tomaselli, PJ ; Rossor, AM ; Horga, A...
https://discovery.ucl.ac.uk/id/eprint/1547035/1/Tomaselli_Mutations_noncoding_regions_GJB1.pdf. , 2017

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

12

Hereditary sensory and autonomic neuropathy type 1 (HSANI) ..:

Murphy, SM ; Ernst, D ; Wei, Y...
https://discovery.ucl.ac.uk/id/eprint/1393821/1/Neurology-2013-Murphy-2106-11.pdf. , 2013

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

13

High frequency of the expanded C9ORF72 hexanucleotide repea..:

Mok, KY ; Koutsis, G ; Schottlaender, LV...
https://discovery.ucl.ac.uk/id/eprint/1399012/2/1399012.pdf. , 2012

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

14

X inactivation in females with X-linked Charcot-Marie-Tooth..:

Murphy, SM ; Ovens, R ; Polke, J...
https://discovery.ucl.ac.uk/id/eprint/1399010/1/1399010.pdf. , 2012

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

15

Limb anomalies in the CHARGE association:

Meinecke, P ; Polke, A ; Schmiegelow, P
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015585. , 1989

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