Marco Savarese

University of Helsinki

Finland

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Articles (10)

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Year:

2022

Collaborators (12)

Cristina Dominguez

SPAIN

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Johann Böhm

Associate professor

Institut de Génétique et de Biologie Moléculaire et Cellulaire

FRANCE

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Mario Sabatelli

Assistent professor

Università Cattolica del Sacro Cuore Facoltà di Medicina e Chirurgia

ITALY

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Henna Tyynismaa

University of Helsinki

FINLAND

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Alfredo Brusco

Associate Professor in Medical Genetics

Università degli Studi di Torino

ITALY

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Alistair Forrest

University of Western Australia

AUSTRALIA

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Niina Sandholm

University of Helsinki

FINLAND

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Emil Ylikallio

University of Helsinki

FINLAND

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Chiara Folland

University of Western Australia

AUSTRALIA

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Giorgio Tasca

Clinical Prof of Neuromuscular Science

Newcastle University

UNITED KINGDOM

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Mridul Johari

University of Helsinki

FINLAND

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Gianina Ravenscroft

University of Western Australia

AUSTRALIA

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Marco Savarese

Research Interests

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Articles (10)

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum

Long-term favorable prognosis in late onset dominant distal titinopathy

Correction: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking

Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis

Mutation update for the ACTN2 gene

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function

Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11

Use of animal models to understand titin physiology and pathology

Collaborators (12)

Cristina Dominguez

Johann Böhm

Mario Sabatelli

Henna Tyynismaa

Alfredo Brusco

Alistair Forrest

Niina Sandholm

Emil Ylikallio

Chiara Folland

Giorgio Tasca

Mridul Johari

Gianina Ravenscroft

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