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Mein, Rachael
34  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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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