E-LIB Suche - Ergebnisse für: Malfatti, E

1

New mutations identified in a case of Glycogenin-1 deficien..:

Pruvost, R. ; Csanyi, M. ; Lefebvre, G....
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101046 , 2024

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

2

P402 Nemaline myopathy type 6 caused by variants in the KBT..:

Van Kleef, E. ; Bouman, K. ; Molenaar, J....
Neuromuscular Disorders. 33 (2023) - p. S124 , 2023

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

3

P117 Congenital recessive TTN myopathy: MRI findings in 6 p..:

Frongia, A. ; Brogna, C. ; Malfatti, E....
Neuromuscular Disorders. 33 (2023) - p. S76 , 2023

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

4

VP306 Computed tomography with color reconstruction in a gr..:

Cedillo, R Escobar ; Coria, E Martinez ; Duarte, A Miranda...
Neuromuscular Disorders. 33 (2023) - p. S120 , 2023

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

5

P342 An early onset benign myopathy with glycogen storage c..:

Severa, G. ; Fiorillo, C. ; Scala, M....
Neuromuscular Disorders. 33 (2023) - p. S180-S181 , 2023

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

6

P156 Muscle biopsy findings in a large cohort of patients a..:

Schiava, M. ; Nishino, I. ; Inoue, M....
Neuromuscular Disorders. 33 (2023) - p. S138-S139 , 2023

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

7

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES:

Clayton, J. ; Scriba, C. ; Romero, N....
Neuromuscular Disorders. 31 (2021) - p. S61 , 2021

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

8

FSHD:

Hubregtse, L. ; Bouman, K. ; Lassche, S....
Neuromuscular Disorders. 31 (2021) - p. S101-S102 , 2021

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

9

NEW GENES AND DISEASES:

Moulay, G. ; Nelson, I. ; Lainé, J....
Neuromuscular Disorders. 31 (2021) - p. S141-S142 , 2021

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

10

CONGENITAL MYOPATHIES:

Cedillo, R. Escobar ; Cortes, B. Estrada ; Herrera, M. Castillo...
Neuromuscular Disorders. 31 (2021) - p. S62-S63 , 2021

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

11

DMD - BIOMARKERS:

Cardone, N. ; Taglietti, V. ; Kefi, K....
Neuromuscular Disorders. 31 (2021) - p. S96 , 2021

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

12

METABOLIC MYOPATHIES:

Periou, B. ; Hou, C. ; Decrouy, X....
Neuromuscular Disorders. 31 (2021) - p. S113 , 2021

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

13

Clinical correlations and long‐term follow‐up in 100 patien..:

Guimarães‐Costa, R. ; Fernández‐Eulate, G. ; Wahbi, K....
European Journal of Neurology. 28 (2020) 2 - p. 660-669 , 2020

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

14

MYASTHENIA & RELATED DISORDERS:

de la Banda, M. Gomez Garcia ; Fahmi, N. ; Sternberg, D....
Neuromuscular Disorders. 30 (2020) - p. S57-S58 , 2020

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

15

CONGENITAL MYOPATHIES 1 – NEMALINE:

Bouman, K. ; Küsters, B. ; De Winter, J....
Neuromuscular Disorders. 30 (2020) - p. S53 , 2020

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