Suchergebnisse - "Fattori, Fabiana"

PubPharm (115)

1

Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene

enthalten in: Neuromuscular disorders : NMD | 2024

von Perna, A. | Bosco, L. | Fattori, F. | +8

2

Titin copy number variations associated with dominant inherited phenotypes

enthalten in: Journal of medical genetics | 2024

von Perrin, A. | Métay, C. | Savarese, M. | +30

3

Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset : A Case Report and Review of Literature

enthalten in: Journal of personalized medicine | 2023

von De Rose, D. | Ronci, S. | Caoci, S. | +16

4

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics : a report on five patients

enthalten in: Frontiers in cardiovascular medicine | 2023

von Baban, A. | Cicenia, M. | Magliozzi, M. | +16

5

Cardiovascular Involvement in Pediatric FLNC Variants : A Case Series of Fourteen Patients

enthalten in: Journal of cardiovascular development and disease | 2022

von Baban, A. | Alesi, V. | Magliozzi, M. | +12

6

Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy

enthalten in: International journal of molecular sciences | 2022

von Bosco, L. | Leone, D. | Costa Comellas, L. | +6

7

Hepatobiliary disease in XLMTM. A common comorbidity with potential impact on treatment strategies

enthalten in: ResearchSquare.com | 2022

von D'Amico, A. | Longo, A. | Fattori, F. | +8

8

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies : a large international cohort

enthalten in: Journal of neurology | 2022

von Quijano-Roy, S. | Haberlova, J. | Castiglioni, C. | +27

9

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores : an Italian population study

enthalten in: Acta neuropathologica communications | 2022

von Fusto, A. | Cassandrini, D. | Fiorillo, C. | +31

10

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

enthalten in: Acta Neuropathologica Communications | 2022

von Fusto, A. | Cassandrini, D. | Fiorillo, C. | +31

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