Suchergebnisse - "D'Ambrosio, Paola"

PubPharm (35)

1

Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report

enthalten in: Biomolecules | 2024

von Onore, M. | Picillo, E. | D'Ambrosio, P. | +3

2

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients : the Italian EURO-NMD experience

enthalten in: Orphanet journal of rare diseases | 2023

von Fortunato, F. | Bianchi, F. | Ricci, G. | +48

3

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

enthalten in: Orphanet journal of rare diseases | 2023

von Fortunato, F. | Bianchi, F. | Ricci, G. | +48

4

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience

enthalten in: Orphanet journal of rare diseases | 2023

von Fortunato, F. | Bianchi, F. | Ricci, G. | +48

5

Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

enthalten in: Genes | 2021

von Onore, M. | Torella, A. | Musacchia, F. | +5

6

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

enthalten in: Frontiers in neurology | 2020

von Orsini, C. | Petillo, R. | D'Ambrosio, P. | +6

7

Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies

enthalten in: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology | 2019

von D'Ambrosio, P. | Petillo, R. | Torella, A. | +8

8

Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report

enthalten in: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology | 2018

von D'Ambrosio, P. | Orsini, C. | Nigro, V. | +1

9

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel

enthalten in: Human mutation | 2018

von Altamura, C. | Lucchiari, S. | Sahbani, D. | +17

10

Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report

enthalten in: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology | 2017

von Papa, A. | Rago, A. | Petillo, R. | +5