E-LIB Suche - Ergebnisse für: Longman, Cheryl

1

The West of Scotland Cohort of Mitochondrial Individuals wi..:

Saunders, Charlie ; Longman, Cheryl ; Gorman, Grainne...
Journal of Neuromuscular Diseases. 11 (2024) 1 - p. 179-189 , 2024

Link: https://doi.org/10.3233/..

2

Characterizing the clinical course of pediatric-onset neuro..:

Sheikh, Maheen ; Koch, Rebecca ; Longman, Cheryl..
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108182 , 2024

Link: https://doi.org/10.1016/..

3

Glycogen storage disease type IV without detectable polyglu..:

Oliwa, Agata ; Langlands, Gavin ; Sarkozy, Anna...
Neuromuscular Disorders. 33 (2023) 9 - p. 98-105 , 2023

Link: https://doi.org/10.1016/..

4

Masseter muscle volume as a disease marker in adult-onset m..:

Oliwa, Agata ; Hocking, Clarissa ; Hamilton, Mark J...
Neuromuscular Disorders. 32 (2022) 11-12 - p. 893-902 , 2022

Link: https://doi.org/10.1016/..

5

Clinical and neuroradiological correlates of sleep in myoto..:

Hamilton, Mark J ; Atalaia, Antonio ; McLean, John...
Neuromuscular Disorders. 32 (2022) 5 - p. 377-389 , 2022

Link: https://doi.org/10.1016/..

6

Lethal respiratory course and additional features expand th..:

Oliwa, Agata ; Hendson, Glenda ; Longman, Cheryl...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 546-553 , 2022

Link: https://doi.org/10.1002/..

7

Making sense of missense variants in TTN-related congenital..:

Rees, Martin ; Nikoopour, Roksana ; Fukuzawa, Atsushi...
Acta Neuropathologica. 141 (2021) 3 - p. 431-453 , 2021

Link: https://doi.org/10.1007/..

8

A DM1 patient with CCG variant repeats: Reaching the diagno..:

Cumming, Sarah A. ; Oliwa, Agata ; Stevens, Gillian...
Neuromuscular Disorders. 31 (2021) 3 - p. 232-238 , 2021

Link: https://doi.org/10.1016/..

9

The phenotypic and genotypic features of a Scottish cohort ..:

Gandhi, Sacha E. ; Longman, Cheryl ; Petty, Richard K.H....
Neuromuscular Disorders. 31 (2021) 8 - p. 695-700 , 2021

Link: https://doi.org/10.1016/..

10

Impaired Autoinhibition of Protein Kinase Cγ in Spinocerebe..:

Pilo, Caila A. ; Kunkel, Maya T. ; Van, An-Angela N....
The FASEB Journal. 34 (2020) S1 - p. 1-1 , 2020

Link: https://doi.org/10.1096/..

11

A clinical scoring system for congenital contractural arach..:

Meerschaut, Ilse ; De Coninck, Shana ; Steyaert, Wouter...
Genetics in Medicine. 22 (2020) 1 - p. 124-131 , 2020

Link: https://doi.org/10.1038/..

12

Outcome Measures for Central Nervous System Evaluation in M..:

Hamilton, Mark J. ; McLean, John ; Cumming, Sarah...
Frontiers in Neurology. 9 (2018) - p. , 2018

Link: https://doi.org/10.3389/..

13

De novo repeat interruptions are associated with reduced so..:

The Scottish Myotonic Dystrophy Consortium ; Cumming, Sarah A. ; Hamilton, Mark J....
European Journal of Human Genetics. 26 (2018) 11 - p. 1635-1647 , 2018

Link: https://doi.org/10.1038/..

14

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/..

15

Elevated plasma levels of cardiac troponin-I predict left v..:

Hamilton, Mark J. ; Robb, Yvonne ; Cumming, Sarah...
PLOS ONE. 12 (2017) 3 - p. e0174166 , 2017

Link: https://doi.org/10.1371/..