E-LIB Suche - Ergebnisse für: Biancalana, V

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

Studying and applying magnetic dressing with a Bell and Blo..:

Bevilacqua, G ; Biancalana, V ; Dancheva, Y.
Journal of Physics: Conference Series. 1859 (2021) 1 - p. 012018 , 2021

Link: https://doi.org/10.1088/..

3

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES:

Labasse, C. ; Brochier, G. ; Rendu, J....
Neuromuscular Disorders. 31 (2021) - p. S59 , 2021

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

4

P.114Clinical, histological, and genetic characterization o..:

Lornage, X. ; Schartner, V. ; Balbueno, I....
Neuromuscular Disorders. 29 (2019) - p. S82 , 2019

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

5

METABOLIC MYOPATHIES I:

Echaniz-Laguna, A. ; Nadjar, Y. ; Béhin, A....
Neuromuscular Disorders. 28 (2018) - p. S114 , 2018

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

6

An integrated modelling methodology for estimating the prev..:

Vandersmissen, I. ; Biancalana, V. ; Servais, L....
Neuromuscular Disorders. 28 (2018) 9 - p. 766-777 , 2018

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

7

CONGENITAL MYOPATHIES (CNM):

Lornage, X. ; Sabouraud, P. ; Lannes, B....
Neuromuscular Disorders. 28 (2018) - p. S73-S74 , 2018

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

8

CONGENITAL MYOPATHIES (CNM):

Annoussamy, M. ; Lilien, C. ; Gidaro, T....
Neuromuscular Disorders. 28 (2018) - p. S71 , 2018

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

9

A national French consensus on gene lists for NGS-based dia..:

Krahn, M. ; Biancalana, V. ; Michel-Calemard, L....
Neuromuscular Disorders. 27 (2017) - p. S196 , 2017

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

10

New myotubular myopathy classification:

Lilien, C. ; Annoussamy, M. ; Gidaro, T....
Neuromuscular Disorders. 27 (2017) - p. S169 , 2017

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

11

Integrated analysis of the large-scale sequencing project "..:

Böhm, J. ; Schneider, R. ; Malfatti, E....
Neuromuscular Disorders. 27 (2017) - p. S195 , 2017

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

12

X-Linked myotubular myopathy (XLMTM): phenotypic variabilit:

Ortez, C. ; Natera, D. ; Colomer, J....
Neuromuscular Disorders. 27 (2017) - p. S170 , 2017

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

13

Longitudinal data of patients with myotubular myopathy enro..:

Annoussamy, M. ; Lilien, C. ; Gidaro, T....
Neuromuscular Disorders. 27 (2017) - p. S170 , 2017

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

14

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopath:

Schartner, V. ; Romero, N. ; Donkervoort, S....
Neuromuscular Disorders. 27 (2017) - p. S175-S176 , 2017

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

15

A novel mutation in HSPB8 causes dominant adult-onset axial..:

Echaniz-Laguna, A. ; Lornage, X. ; Lannes, B....
Neuromuscular Disorders. 27 (2017) - p. S120 , 2017

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