E-LIB Suche - Ergebnisse für: Ruggieri, Alessandra

1

Protein Aggregates and Aggrephagy in Myopathies:

Gibertini, Sara ; Ruggieri, Alessandra ; Cheli, Marta.
International Journal of Molecular Sciences. 24 (2023) 9 - p. 8456 , 2023

Link: https://doi.org/10.3390/..

2

PLIN4-related myopathy: clinical, histological and imaging ..:

Maggi, Lorenzo ; Gibertini, Sara ; Iannibelli, Eliana...
Journal of Neurology. 270 (2023) 9 - p. 4538-4543 , 2023

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

3

Multiomic elucidation of a coding 99-mer repeat-expansion s..:

Ruggieri, Alessandra ; Naumenko, Sergey ; Smith, Martin A....
Acta Neuropathologica. 140 (2020) 2 - p. 231-235 , 2020

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

4

Myopathic changes associated with psychomotor delay and sei..:

Saredi, Simona ; Cauley, Edmund S. ; Ruggieri, Alessandra...
Muscle & Nerve. 62 (2020) 2 - p. 266-271 , 2020

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

5

Dominant LMAN2L mutation causes intellectual disability wit..:

Alkhater, Reem A. ; Wang, Peixiang ; Ruggieri, Alessandra...
Annals of Clinical and Translational Neurology. 6 (2019) 4 - p. 807-811 , 2019

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

6

Expanding the central nervous system disease spectrum assoc..:

Previtali, Stefano C. ; Scarlato, Marina ; Vezzulli, Paolo...
Muscle & Nerve. 59 (2019) 5 - p. , 2019

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

7

Long term follow-up and further molecular and histopatholog..:

Gibertini, Sara ; Ruggieri, Alessandra ; Saredi, Simona...
Acta Neuropathologica Communications. 6 (2018) 1 - p. , 2018

Link: https://doi.org/10.1186/..

8

Exosomes and exosomal miRNAs from muscle-derived fibroblast..:

Zanotti, Simona ; Gibertini, Sara ; Blasevich, Flavia...
Matrix Biology. 74 (2018) - p. 77-100 , 2018

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

9

Biobank of Cells, Tissues and DNA from Patients with Neurom..:

Mora, Marina ; Bragato, Cinzia ; Gibertini, Sara...
Open Journal of Bioresources. 4 (2017) - p. , 2017

Link: https://doi.org/10.5334/..

10

The genetic basis of undiagnosed muscular dystrophies and m..:

Savarese, Marco ; Di Fruscio, Giuseppina ; Torella, Annalaura...
Neurology. 87 (2016) 1 - p. 71-76 , 2016

Link: https://doi.org/10.1212/..

11

DNAJB6 Myopathies: Focused Review on an Emerging and Expand..:

Ruggieri, Alessandra ; Saredi, Simona ; Zanotti, Simona...
Frontiers in Molecular Biosciences. 3 (2016) - p. , 2016

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

12

Complete loss of the DNAJB6 G/F domain and novel missense m..:

Ruggieri, Alessandra ; Brancati, Francesco ; Zanotti, Simona...
Acta Neuropathologica Communications. 3 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

13

CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, ..:

Heimer, Gali ; Sadaka, Yair ; Israelian, Lori...
Journal of Child Neurology. 30 (2015) 13 - p. 1749-1756 , 2015

Link: https://doi.org/10.1177/..

14

Congenital autophagic vacuolar myopathy is allelic to X-lin..:

Munteanu, Iulia ; Ramachandran, Nivetha ; Ruggieri, Alessandra...
Neurology. 84 (2015) 16 - p. 1714-1716 , 2015

Link: https://doi.org/10.1212/..

15

Late adult‐onset of X‐linked myopathy with excessive autoph..:

Crockett, Cameron D. ; Ruggieri, Alessandra ; Gujrati, Meena...
Muscle & Nerve. 50 (2014) 1 - p. 138-144 , 2014

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