A. Casarín

发表

Mitochondrial Cristae Shape Determines Respiratory Chain Supercomplexes Assembly and Respiratory Efficiency

Sara Cipolat, Luca Scorrano, Christian Frezza, 2013, Cell.

A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.

M. Bortolozzi, L. Scorrano, C. Angelini, 2008, Human molecular genetics.

Low frequency of VHL gene mutations in young individuals with polycythemia and high serum erythropoietin.

F. Fabris, A. Casarín, M. Putti, 2005, Haematologica.

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations

V. Pertegato, S. Dimauro, E. Schon, 2012, Orphanet Journal of Rare Diseases.

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

C. Angelini, P. Navas, E. Trevisson, 2015, European Journal of Human Genetics.

Angelman Syndrome Due to a Novel Splicing Mutation of the UBE3A Gene

S. Sartori, A. Casarín, A. Murgia, 2008, Journal of child neurology.

A novel CRYAB mutation resulting in multisystemic disease

L. Féasson, J. Antoine, A. Casarín, 2012, Neuromuscular Disorders.

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

S. Tapscott, E. Bakker, E. Pegoraro, 2013, American journal of human genetics.

Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations*

V. Pertegato, P. Navas, G. Basso, 2009, The Journal of Biological Chemistry.

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

V. Pertegato, S. Dimauro, P. Navas, 2012, Journal of Medical Genetics.

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

P. Navas, E. Trevisson, A. Casarín, 2014, Biochimica et biophysica acta.

Molecular characterization of the human COQ 5 C-methyltransferase in coenzyme Q 10 biosynthesis ☆

P. Navas, E. Trevisson, A. Casarín, 2014 .

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

V. Pertegato, C. Angelini, A. Casarín, 2012, Nature Protocols.

LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.

L. Scorrano, A. Winterpacht, E. Trevisson, 2007, Human molecular genetics.

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

V. Pertegato, Y. Raphael, H. Prokisch, 2011, The Journal of clinical investigation.

Molecular Characterization of Large Deletions in the von Hippel-Lindau (VHL) Gene by Quantitative Real-Time PCR

A. Casarín, A. Murgia, E. Leonardi, 2006, Molecular Diagnosis & Therapy.

Complexity of the 5′UTR region of the CLCN5 gene: eleven 5′UTR ends are differentially expressed in the human kidney

E. Tosetto, F. Anglani, J. Lieske, 2014, BMC Medical Genomics.

Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?

M. Clementi, S. Sartori, A. Casarín, 2011, The Journal of Headache and Pain.

Transcriptional programming of lipid and amino acid metabolism by the skeletal muscle circadian clock

V. Pertegato, G. Biolo, R. Rizzuto, 2018, PLoS biology.

Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene

G. Basso, E. Trevisson, L. Cesaro, 2007, Human mutation.

Molecular analysis of two uncharacterized sequence variants of the VHL gene

E. Trevisson, A. Casarín, L. Salviati, 2006, Journal of Human Genetics.

FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome

M. Clementi, A. Casarín, L. Salviati, 2015, American journal of medical genetics. Part A.

X‐linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple

R. Tenconi, E. Trevisson, M. Clementi, 2009, American journal of medical genetics. Part A.

SEVERE CMT TYPE 2 WITH FATAL ENCEPHALOPATHY ASSOCIATED WITH A NOVEL MFN2 SPLICING MUTATION

F. Boaretto, A. Martinuzzi, M. Muglia, 2010, Neurology.

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.

V. Pertegato, C. Angelini, M. Ermani, 2011, Mitochondrion.

Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells

E. Trevisson, A. Casarín, L. Salviati, 2019, Scientific Reports.

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.

V. Pertegato, P. Navas, G. Basso, 2008, Biochemical and biophysical research communications.

Is CFTR 621+3 A>G a cystic fibrosis causing mutation?

V. Pertegato, E. Trevisson, M. Forzan, 2010, Journal of Human Genetics.

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay

E. Trevisson, M. Clementi, A. Casarín, 2015, Clinical chemistry and laboratory medicine.

Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A

M. Clementi, A. Casarín, C. Rigon, 2011, Seizure.

Case Age* Follow up RBC volume Hb HCT WBC Platelets EEC EPO Associated VHL (sex) (years, months) duration (mL/kg) (g/L) (%) (×10

F. Fabris, A. Casarín, M. Putti, 2005 .

The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.

S. Tapscott, E. Bakker, E. Pegoraro, 2013, American journal of human genetics.

A novel CRYAB mutation resulting in multisystemic disease

L. Féasson, J. Antoine, A. Casarín, 2012, Neuromuscular Disorders.