A. Madelaine

发表

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies

I. Nelson, E. Malfatti, N. Romero, 2018, Journal of neuropathology and experimental neurology.

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3‐related type 1 pontocerebellar hypoplasia

E. Malfatti, N. Romero, E. Tizzano, 2018, Muscle & nerve.

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

E. Malfatti, N. Romero, I. Nishino, 2019, Acta Neuropathologica Communications.

Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy

M. Koenig, N. Romero, M. Cossée, 2020, Journal of Medical Genetics.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

K. Pelin, V. Lehtokari, E. Malfatti, 2014, Acta neuropathologica communications.

Muscle histopathology in nebulin-related nemaline myopathy Malfatti

K. Pelin, V. Lehtokari, E. Malfatti, 2022 .

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

E. Malfatti, N. Romero, J. Rendu, 2019, Acta neuropathologica communications.

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

S. Coppens, L. Servais, N. Romero, 2022, Acta neuropathologica communications.

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.

N. Romero, P. Laforêt, B. Eymard, 2018, Genetic testing and molecular biomarkers.

Congenital Nemaline Myopathy with Dense Protein Masses.

E. Malfatti, N. Romero, J. Rendu, 2022, Journal of neuropathology and experimental neurology.

Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation

A. Bigot, V. Mouly, J. Vallat, 2022, bioRxiv.

NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.

E. Malfatti, C. Ottenheijm, N. Romero, 2021, Journal of neuropathology and experimental neurology.

‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

E. Malfatti, N. Romero, J. Rendu, 2019, Acta neuropathologica communications.

Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

E. Malfatti, N. Romero, I. Nishino, 2019, Acta Neuropathologica Communications.

P.479 Morphological spectrum of RYR1 recessive myopathies: Clinical and genetic correlation.

N. Romero, J. Rendu, J. Bevilacqua, 2017, Neuromuscular Disorders.