E-LIB Suche - Ergebnisse für: Bugiardini, E.

1

P.139 A cross sectional study of genetically confirmed coho..:

Vishnu, V. ; Lemmers, R. ; Bugiardini, E....
Neuromuscular Disorders. 32 (2022) - p. S105 , 2022

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

2

FSHD:

Alobaidan, A. ; Bugiardini, E. ; Morrow, J....
Neuromuscular Disorders. 31 (2021) - p. S101 , 2021

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

3

1st FSHD European Trial Network workshop:Working towards tr..:

Voermans, N.C. ; Vriens-Munoz Bravo, M. ; Padberg, G.W....
Neuromuscular Disorders. 31 (2021) 9 - p. 907-918 , 2021

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

4

EP.103Genetic and phenotypic characterisation of inherited ..:

Bugiardini, E. ; Khan, A. ; Phadke, R....
Neuromuscular Disorders. 29 (2019) - p. S182 , 2019

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

5

Urogenital symptoms in mitochondrial disease: overlooked an..:

Poole, O. V. ; Uchiyama, T. ; Skorupinska, I....
European Journal of Neurology. 26 (2019) 8 - p. 1111-1120 , 2019

Link: https://doi.org/10.1111/..

6

Natural history and mortality studies in mitochondrial dise..:

Skorupinska, I. ; Bugiardini, E. ; Hanna, M.G..
Neuromuscular Disorders. 28 (2018) - p. S33 , 2018

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

7

Mitochondrial ribosomal protein S25 (MRPS25) mutations impa..:

Bugiardini, E. ; Mitchell, A. ; Dalla Rosa, I....
Neuromuscular Disorders. 28 (2018) - p. S30-S31 , 2018

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

8

The "hidden" mitochondrial genome: a novel bioinformatic ap..:

Poole, O.V. ; Murphy, D. ; Woodward, C....
Neuromuscular Disorders. 28 (2018) - p. S33 , 2018

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

9

CONGENITAL MUSCULAR DYSTROPHIES:

Bugiardini, E. ; Phadke, R. ; Maas, R....
Neuromuscular Disorders. 28 (2018) - p. S131 , 2018

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

10

Next generation sequencing in inherited myopathies:

Bugiardini, E. ; Lynch, D. ; Pittman, A....
Neuromuscular Disorders. 27 (2017) - p. S42 , 2017

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

11

TPK1 mutations: unmasking a potentially treatable cause of ..:

Bugiardini, E. ; Poole, O.V. ; Pittman, A....
Neuromuscular Disorders. 27 (2017) - p. S23 , 2017

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

12

Service evaluation exploring the incidence of vestibular an..:

Holmes, S. ; Male, A. ; Ramdharry, G.M....
Neuromuscular Disorders. 27 (2017) - p. S22-S23 , 2017

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

13

Cause of death in a cohort of mitochondrial patients:

Skorupinska, I. ; Bugiardini, E. ; Ng, Y.S....
Neuromuscular Disorders. 27 (2017) - p. S19 , 2017

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

14

SCN4A mutation as modifying factor of Myotonic Dystrophy Ty..:

Bugiardini, E. ; Rivolta, I. ; Binda, A....
Neuromuscular Disorders. 25 (2015) 4 - p. 301-307 , 2015

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

15

Consensus on cerebral involvement in myotonic dystrophy:

Bugiardini, E. ; Meola, G.
Neuromuscular Disorders. 24 (2014) 5 - p. 445-452 , 2014

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