E-LIB Suche - Ergebnisse für: Gurgel-Giannetti, J.

1

O16 New FDX2-loss of function phenotype presenting with bli..:

Foley, A. ; Maio, N. ; Todd, J....
Neuromuscular Disorders. 33 (2023) - p. S133 , 2023

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

2

FP.22 Results from the end of Part A of the ongoing 3-part ..:

Day, J. ; Finkel, R. ; Pascual, S....
Neuromuscular Disorders. 32 (2022) - p. S85 , 2022

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

3

SMA - TREATMENT:

Mercuri, E. ; Finkel, R. ; Day, J....
Neuromuscular Disorders. 31 (2021) - p. S132 , 2021

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

4

SMA - TREATMENT:

Ryan, M. ; Finkel, R. ; Pascual, S. Pascual...
Neuromuscular Disorders. 31 (2021) - p. S131 , 2021

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

5

SMA – THERAPY:

Finkel, R. ; Day, J. ; Ryan, M....
Neuromuscular Disorders. 30 (2020) - p. S124 , 2020

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

6

LIMB GIRDLE MUSCULAR DYSTROPHIES:

Souza, L. ; Gurgel-Giannetti, J. ; Sampaio, G....
Neuromuscular Disorders. 30 (2020) - p. S91-S92 , 2020

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

7

P.54Defects in iron-sulphur cluster assembly proteins ISCU ..:

Thomsen, C. ; Gurgel-Giannetti, J. ; Sunnerhagen, Y....
Neuromuscular Disorders. 29 (2019) - p. S56-S57 , 2019

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

8

Biallelic mutation in FDXIL leads to a complex phenotype: o..:

Gurgel-Giannetti, J. ; Lynch, D. ; Paiva, A....
Neuromuscular Disorders. 27 (2017) - p. S206-S207 , 2017

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

9

Rare phenotypes related to novel autosomal recessive TTN tr..:

Gurgel-Giannetti, J. ; Linhares, N. ; Giannetti, A....
Neuromuscular Disorders. 27 (2017) - p. S238 , 2017

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

10

Corticosteroid treatment in early-onset lamin A/C related m..:

Dabaj, I. ; Ben Yaou, R. ; Bönnemann, C....
Neuromuscular Disorders. 27 (2017) - p. S138 , 2017

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

11

Nemaline myopathy: Clinical, pathological, muscle imaging a..:

Gurgel-Giannetti, J. ; Yamamoto, G. ; Lazar, M....
Neuromuscular Disorders. 26 (2016) - p. S132 , 2016

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

12

Next generation sequencing (NGS): A powerful tool for study..:

Gurgel-Giannetti, J. ; Concentino, E. ; Lazar, M....
Neuromuscular Disorders. 25 (2015) - p. S269 , 2015

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

13

Nemaline myopathy: Next generation sequencing (NGS) signifi..:

Gurgel-Giannetti, J. ; Lazar, M. ; Pavanello, R....
Neuromuscular Disorders. 25 (2015) - p. S288 , 2015

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

14

Steroid benefit in a laminopathy-congenital muscular dystro..:

Gurgel-Giannetti, J. ; Ribeiro, B. ; Uliana, L....
Neuromuscular Disorders. 25 (2015) - p. S279-S280 , 2015

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

15

P.4.5 Muscle NMR imaging in the rare E650K mutation in the ..:

Vainzof, M. ; Calyjur, P. ; Otaduy, M.C.G....
Neuromuscular Disorders. 23 (2013) 9-10 - p. 761 , 2013

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