|
|
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.
J. A. Bevilacqua
,
Nicole Monnier
,
Marcus Bitoun
,
Bruno Eymard
,
Ana Ferreiro
et al.
Journal articles
inserm-00639292v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Edoardo Malfatti
,
Vilma-Lotta Lehtokari
,
Johann Böhm
,
Josine de Winter
,
Ursula Schäffer
et al.
Journal articles
inserm-00987739v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Rainiero Ávila-Polo
,
Edoardo Malfatti
,
Xavière Lornage
,
Chrystel Cheraud
,
Isabelle Nelson
et al.
Journal articles
hal-02332968v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression
Jing Liu
,
Daniela Ottaviani
,
Meriem Sefta
,
Céline Desbrousses
,
Elodie Chapeaublanc
et al.
Journal articles
hal-03374490v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
Osorio Abath Neto
,
Cristiane de Araujo Martins Moreno
,
Edoardo Malfatti
,
Sandra Donkervoort
,
Johann Bohm
et al.
Journal articles
hal-01741730v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset
Marc Bitoun
,
Jorge Alfredo Bevilacqua
,
Bernard Prudhon
,
Svetlana Maugenre
,
Ana Lia Taratuto
et al.
Journal articles
istex
hal-02448610v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
Matteo Garibaldi
,
John Rendu
,
Julie Brocard
,
Emmanuelle Lacène
,
Julien Fauré
et al.
Journal articles
hal-01973947v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Sandra Donkervoort
,
Carl E. Kutzner
,
Ying Hu
,
Xavière Lornage
,
John Rendu
et al.
Journal articles
hal-03668017v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|