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Mein, Rachael
34
results:
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Online (34)
Mediatypes
Articles (Online) (19)
OpenAccess-fulltext (15)
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1
Carrier testing for partners ofMUTYHvariant carriers: UK Ca..:
McVeigh, Terri Patricia
;
Lalloo, Fiona
;
Monahan, Kevin J
...
Journal of Medical Genetics. 61 (2024) 8 - p. 813-816 , 2024
Link:
https://doi.org/10.1136/..
?
2
Long-term Natural History of Pediatric Dominant and Recessi..:
Sarkozy, Anna
;
Sa, Mario
;
Ridout, Deborah
...
Neurology. 101 (2023) 15 - p. , 2023
Link:
https://doi.org/10.1212/..
?
3
Homozygous intronic variants in TPM2 cause recessively inhe..:
Schirwani, Schaida
;
Sarkozy, Anna
;
Phadke, Rahul
...
Neuromuscular Disorders. 31 (2021) 4 - p. 359-366 , 2021
Link:
https://doi.org/10.1016/..
?
4
Selenoprotein N‐related myopathy: a retrospective natural h..:
Silwal, Arpana
;
Sarkozy, Anna
;
Scoto, Mariacristina
...
Annals of Clinical and Translational Neurology. 7 (2020) 11 - p. 2288-2296 , 2020
Link:
https://doi.org/10.1002/..
?
5
LAMA2‐related muscular dystrophy: Natural history of a larg..:
Zambon, Alberto A.
;
Ridout, Deborah
;
Main, Marion
...
Annals of Clinical and Translational Neurology. 7 (2020) 10 - p. 1870-1882 , 2020
Link:
https://doi.org/10.1002/..
?
6
ECEL1 gene related contractural syndrome: Long-term follow-..:
Ullmann, Urielle
;
D'Argenzio, Luigi
;
Mathur, Shrey
...
Neuromuscular Disorders. 28 (2018) 9 - p. 741-749 , 2018
Link:
https://doi.org/10.1016/..
?
7
Autopsy findings in EPG5‐related Vici syndrome with antenat..:
Touraine, Renaud
;
Laquerrière, Annie
;
Petcu, Carmen‐Adina
...
American Journal of Medical Genetics Part A. 173 (2017) 9 - p. 2522-2527 , 2017
Link:
https://doi.org/10.1002/..
?
8
Congenital muscular dystrophies in the UK population: Clini..:
Sframeli, Maria
;
Sarkozy, Anna
;
Bertoli, Marta
...
Neuromuscular Disorders. 27 (2017) 9 - p. 793-803 , 2017
Link:
https://doi.org/10.1016/..
?
9
EPG5-related Vici syndrome: a paradigm of neurodevelopmenta..:
Byrne, Susan
;
Jansen, Lara
;
U-King-Im, Jean-Marie
...
Brain. 139 (2016) 3 - p. 765-781 , 2016
Link:
https://doi.org/10.1093/..
?
10
Merosin-deficient congenital muscular dystrophy: A novel ho..:
Turner, Clinton
;
Mein, Rachael
;
Sharpe, Cynthia
.
Journal of Clinical Neuroscience. 22 (2015) 12 - p. 1983-1985 , 2015
Link:
https://doi.org/10.1016/..
?
11
RYR1-related malignant hyperthermia with marked cerebellar ..:
Forrest, Katharine M.L.
;
Foulds, Nicola
;
Millar, John S.
...
Neuromuscular Disorders. 25 (2015) 2 - p. 138-140 , 2015
Link:
https://doi.org/10.1016/..
?
12
The genetic diversity of cystinuria in a UK population of p..:
Wong, Kathie A.
;
Mein, Rachael
;
Wass, Mark
...
BJU International. 116 (2015) 1 - p. 109-116 , 2015
Link:
https://doi.org/10.1111/..
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13
Genotype–phenotype correlation in a large population of mus..:
Geranmayeh, Fatemeh
;
Clement, Emma
;
Feng, Lucy H
...
Neuromuscular Disorders. 20 (2010) 4 - p. 241-250 , 2010
Link:
https://doi.org/10.1016/..
?
14
A Comparative Study of α‐Dystroglycan Glycosylation in Dyst..:
Jimenez‐Mallebrera, Cecilia
;
Torelli, Silvia
;
Feng, Lucy
...
Brain Pathology. 19 (2009) 4 - p. 596-611 , 2009
Link:
https://doi.org/10.1111/..
?
15
Brain involvement in muscular dystrophies with defective dy..:
Clement, Emma
;
Mercuri, Eugenio
;
Godfrey, Caroline
...
Annals of Neurology. 64 (2008) 5 - p. 573-582 , 2008
Link:
https://doi.org/10.1002/..
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