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Reilly, MM
164  results:
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1

Mutational analysis of PMP22, EGR2, LITAF and NEFL in Greek..:

Koutsis, G ; Pandraud, A ; Karadima, G...
Clinical Genetics.  83 (2013)  4 - p. 388-391 , 2013
Link: https://doi.org/10.1111/..
 
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2

Lower limb muscle MRI fat fraction is a responsive outcome ..:

Doherty, CM ; Morrow, JM ; Zuccarino, R...
https://discovery.ucl.ac.uk/id/eprint/10185259/1/Lower%20limb%20muscle%20MRI%20fat%20fraction%20is%20a%20responsive%20outcome%20measure%20in%20CMT%20X1%20%201B.pdf.  , 2024
Link: https://discovery.ucl.ac..
 
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3

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

Ronco, R ; Perini, C ; Curro, R...
NEUROLOGY.  , 2023
Link: https://qmro.qmul.ac.uk/..
 
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4

Investigating genotype–phenotype relationship of extreme ne..:

Themistocleous, AC ; Baskozos, G ; Blesneac, I...
doi:10.1093/braincomms/fcad037.  , 2023
Link: https://doi.org/10.1093/..
 
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5

Investigating genotype-phenotype relationship of extreme ne..:

Themisctocleous, AC ; Baskovos, G ; Blesneac, I...
https://openaccess.sgul.ac.uk/id/eprint/114973/6/fcad037.pdf.  , 2023
Link: https://openaccess.sgul...
 
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6

Association of plasma neurofilament light chain with diseas..:

Kapoor, M ; Carr, AS ; Foiani, MS...
https://discovery.ucl.ac.uk/id/eprint/10152740/1/Euro%20J%20of%20Neurology%20-%202022%20-%20Kapoor%20-%20Association%20of%20plasma%20neurofilament%20light%20chain%20with%20disease%20activity%20in%20chronic.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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7

Motor neuron pathology in CANVAS due to RFC1 expansions:

Huin, V ; Coarelli, G ; Guemy, C...
https://discovery.ucl.ac.uk/id/eprint/10141005/1/awab449%20%281%29.pdf.  , 2022
Link: https://discovery.ucl.ac..
 
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8

Clinical and Genetic Evaluation of People with or at Risk o..:

Gillmore, JD ; Reilly, MM ; Coats, CJ...
https://researchonline.ljmu.ac.uk/id/eprint/17145/1/Clinical%20and%20Genetic%20Evaluation%20of%20People%20with%20or%20at%20Risk%20of%20Hereditary%20ATTR%20Amyloidosis.pdf.  , 2022
Link: http://researchonline.lj..
 
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9

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..
 
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10

Musclesense: a Trained, Artificial Neural Network for the A..:

Kanber, B ; Morrow, JM ; Klickovic, U...
https://discovery.ucl.ac.uk/id/eprint/10111520/1/Kanber_Musclesense%20news%20article_v15_rev1_v4_clean_ISS.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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11

An ancestral 10-bp repeat expansion in VWA1 causes recessiv..:

Pagnamenta, AT ; Kaiyrzhanov, R ; Zou, Y...
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf.  , 2021
Link: https://openaccess.sgul...
 
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12

RFC1 expansions are a common cause of idiopathic sensory ne..:

Currò, R ; Salvalaggio, A ; Tozza, S...
https://discovery.ucl.ac.uk/id/eprint/10127686/1/awab072.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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13

Cardiopulmonary Exercise Performance and Factors Associated..:

Ramdharry, GM ; Wallace, A ; Hennis, P...
https://discovery.ucl.ac.uk/id/eprint/10135749/7/Hanna_Muscle%20and%20Nerve%20-%202021%20-%20Ramdharry%20-%20Cardiopulmonary%20exercise%20performance%20and%20factors%20associated%20with%20aerobic%20capacity%20in.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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14

A novel MT-CO2 variant causing cerebellar ataxia and neurop..:

Baty, K ; Farrugia, ME ; Hopton, S...
https://discovery.ucl.ac.uk/id/eprint/10141624/1/1-s2.0-S0960896621001395-main.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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15

An iPSC model of hereditary sensory neuropathy-1 reveals L-..:

Clark, AJ ; Kugathasan, U ; Baskozos, G...
https://discovery.ucl.ac.uk/id/eprint/10132384/1/1-s2.0-S2666379121001944-main.pdf.  , 2021
Link: https://discovery.ucl.ac..
 
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