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1

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

Alberto Casarin, Francesca Rusalen, Mara Doimo, Eva Trevisson, Silvia Carraro, Maurizio Clementi, Romano Tenconi, Eugenio Baraldi, Leonardo Salviati

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 132 KB

english, 2009

2

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

Eva Trevisson, Leonardo Salviati, Maria Cristina Baldoin, Irene Toldo, Alberto Casarin, Sabrina Sacconi, Luca Cesaro, Giuseppe Basso, Alberto B. Burlina

Journal:

Year:

2007

Language:

english

File:

PDF, 488 KB

english, 2007

3

Molecular analysis of two uncharacterized sequence variants of theVHLgene

Maddalena Martella, Leonardo Salviati, Alberto Casarin, Eva Trevisson, Giuseppe Opocher, Roberta Polli, David Gross, Alessandra Murgia

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 224 KB

english, 2006

4

A novel deletion in theGJA12gene causes Pelizaeus–Merzbacher-like disease

Leonardo Salviati, Eva Trevisson, Maria Cristina Baldoin, Irene Toldo, Stefano Sartori, Milena Calderone, Romano Tenconi, AnnaMaria Laverda

Journal:

Year:

2007

Language:

english

File:

PDF, 261 KB

english, 2007

5

Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

Raquel Montero, José Antonio Sánchez-Alcázar, Paz Briones, Ángeles Rodríguez Hernández, Mario D. Cordero, Eva Trevisson, Leonardo Salviati, Mercé Pineda, Angels García-Cazorla, Plácido Navas, Rafael A

Journal:

Clinical Biochemistry

Year:

2008

Language:

english

File:

PDF, 128 KB

english, 2008

6

Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria

Mara Doimo, Eva Trevisson, Geppo Sartori, Alberto Burlina, Leonardo Salviati

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 65 KB

english, 2012

7

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene

Stefano Sartori, Alberto B. Burlina, Leonardo Salviati, Eva Trevisson, Irene Toldo, Anna Maria Laverda, Alessandro P. Burlina

Journal:

European Journal of Paediatric Neurology

Year:

2008

Language:

english

File:

PDF, 176 KB

english, 2008

8

hCOX18 and hCOX19: Two human genes involved in cytochrome c oxidase assembly

Sabrina Sacconi, Eva Trevisson, Francesca Pistollato, Maria Cristina Baldoin, Roger Rezzonico, Isabelle Bourget, Claude Desnuelle, Romano Tenconi, Giuseppe Basso, Salvatore DiMauro, Leonardo Salviati

Journal:

Biochemical and Biophysical Research Communications

Year:

2005

Language:

english

File:

PDF, 241 KB

english, 2005

9

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

Alberto Casarin, Jose Carlos Jimenez-Ortega, Eva Trevisson, Vanessa Pertegato, Mara Doimo, Maria Lara Ferrero-Gomez, Sara Abbadi, Rafael Artuch, Catarina Quinzii, Michio Hirano, Giuseppe Basso, Carlos

Journal:

Biochemical and Biophysical Research Communications

Year:

2008

Language:

english

File:

PDF, 731 KB

english, 2008

10

M.P.3.12 Characterization of COX16, a novel human gene required for cytochrome c oxidase assembly

S. Sacconi, E. Trevisson, A. Casarin, L. Salviati, C. Desnuelle

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 49 KB

english, 2007

11

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

Sabrina Sacconi, Eva Trevisson, Leonardo Salviati, Ségolène Aymé, Odile Rigal, Alberto Garcia Redondo, Michelangelo Mancuso, Gabriele Siciliano, Paola Tonin, Corrado Angelini, Karine Auré, Anne Lombès

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 203 KB

english, 2010

12

A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency

Catarina Quinzii, Ali Naini, Leonardo Salviati, Eva Trevisson, Plácido Navas, Salvatore DiMauro, Michio Hirano

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 288 KB

english, 2006

13

Functional Analysis of Missense Mutations of OAT , Causing Gyrate Atrophy of Choroid and Retina

Doimo, Mara, Desbats, Maria Andrea, Baldoin, Maria Cristina, Lenzini, Elisabetta, Basso, Giuseppe, Murphy, Elaine, Graziano, Claudio, Seri, Marco, Burlina, Alberto, Sartori, Geppo, Trevisson, Eva, Sal

Journal:

Year:

2013

Language:

english

File:

PDF, 362 KB

english, 2013

14

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency

Doimo, Mara, Trevisson, Eva, Airik, Rannar, Bergdoll, Marc, Santos-Ocaña, Carlos, Hildebrandt, Friedhelm, Navas, Placido, Pierrel, Fabien, Salviati, Leonardo

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2014

Language:

english

File:

PDF, 1.04 MB

english, 2014

15

De novo trisomy 20p characterized by array comparative genomic hybridization: Report of a novel case and review of the literature

Bartolini, Luca, Sartori, Stefano, Lenzini, Elisabetta, Rigon, Chiara, Cainelli, Elisa, Agrati, Cristina, Toldo, Irene, Donà, Marta, Trevisson, Eva

Journal:

Year:

2013

Language:

english

File:

PDF, 430 KB

english, 2013

16

Expanding the mutational spectrum of LZTR1 in schwannomatosis

Paganini, Irene, Chang, Vivian Y, Capone, Gabriele L, Vitte, Jeremie, Benelli, Matteo, Barbetti, Lorenzo, Sestini, Roberta, Trevisson, Eva, Hulsebos, Theo JM, Giovannini, Marco, Nelson, Stanley F, Pap

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 642 KB

english, 2015

17

[IEEE Comput. Soc. Press CompEuro 1992 Computer Systems and Software Engineering - The Hague, Netherlands (4-8 May 1992)] CompEuro 1992 Proceedings Computer Systems and Software Engineering - Learning to solve PP-attachment ambiguities in natural language processing through neural networks

Apolloni, B., Mauri, G., Trevisson, C., Valota, P., Zanaboni, A.M.

Year:

1992

File:

PDF, 610 KB

1992

18

Genetic bases and clinical manifestations of coenzyme Q10(CoQ10) deficiency

Desbats, Maria Andrea, Lunardi, Giada, Doimo, Mara, Trevisson, Eva, Salviati, Leonardo

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 734 KB

english, 2015

19

Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism

Trevisson, E., Forzan, M., Salviati, L., Clementi, M.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 527 KB

english, 2014

20

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

Salviati, L., Trevisson, E., Rodriguez Hernandez, M. A., Casarin, A., Pertegato, V., Doimo, M., Cassina, M., Agosto, C., Desbats, M. A., Sartori, G., Sacconi, S., Memo, L., Zuffardi, O., Artuch, R., Q

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 401 KB

english, 2012

21

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

Dimmer, K. S., Navoni, F., Casarin, A., Trevisson, E., Endele, S., Winterpacht, A., Salviati, L., Scorrano, L.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 838 KB

english, 2007

22

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

Trevisson, E., Burlina, A., Doimo, M., Pertegato, V., Casarin, A., Cesaro, L., Navas, P., Basso, G., Sartori, G., Salviati, L.

Journal:

Journal of Biological Chemistry

Year:

2009

Language:

english

File:

PDF, 1.90 MB

english, 2009

23

The Conserved Mitochondrial Twin Cx 9 C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis

Horn, Darryl, Zhou, Wen, Trevisson, Eva, Al-Ali, Hassan, Harris, Thomas K., Salviati, Leonardo, Barrientos, Antoni

Journal:

Journal of Biological Chemistry

Year:

2010

Language:

english

File:

PDF, 4.32 MB

english, 2010

24

Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome

Trevisson, Eva, Ludwig, Kathrin, Casarin, Alberto, Di Meglio, Annamaria, Greggio, Nella Augusta, Manara, Renzo, Lenzini, Elisabetta, Clementi, Maurizio, Salviati, Leonardo

Journal:

Journal of Dermatological Science

Year:

2015

Language:

english

File:

PDF, 873 KB

english, 2015

25

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

Lopez-Martin, J. M., Salviati, L., Trevisson, E., Montini, G., DiMauro, S., Quinzii, C., Hirano, M., Rodriguez-Hernandez, A., Cordero, M. D., Sanchez-Alcazar, J. A., Santos-Ocana, C., Navas, P.

Journal:

Human Molecular Genetics

Year:

2007

Language:

english

File:

PDF, 298 KB

english, 2007

26

A functionally dominant mitochondrial DNA mutation

Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., Schon, E. A., Bonilla, E., De Vivo, D. C., DiMauro, S.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 402 KB

english, 2008

27

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

Nguyen, Theresa P.T., Casarin, Alberto, Desbats, Maria Andrea, Doimo, Mara, Trevisson, Eva, Santos-Ocaña, Carlos, Navas, Placido, Clarke, Catherine F., Salviati, Leonardo

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Year:

2014

Language:

english

File:

PDF, 2.15 MB

english, 2014

28

Genetics of Coenzyme Q10 Deficiency

Doimo, Mara, Desbats, Maria A., Cerqua, Cristina, Cassina, Matteo, Trevisson, Eva, Salviati, Leonardo

Journal:

Molecular Syndromology

Year:

2014

Language:

english

File:

PDF, 836 KB

english, 2014

29

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency

Sacconi, Sabrina, Salviati, Leonardo, Trevisson, Eva

Journal:

Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 87 KB

english, 2009

30

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

Forzan, Monica, Salviati, Leonardo, Pertegato, Vanessa, Casarin, Alberto, Bruson, Alice, Trevisson, Eva, Di Gianantonio, Elena, Clementi, Maurizio

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 237 KB

english, 2010

31

Is there a link between COQ6 and schwannomatosis?

Trevisson, Eva, Clementi, Maurizio, Salviati, Leonardo

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 515 KB

english, 2015

32

Coenzyme Q biosynthesis in health and disease

Acosta, Manuel Jesús, Vazquez Fonseca, Luis, Desbats, Maria Andrea, Cerqua, Cristina, Zordan, Roberta, Trevisson, Eva, Salviati, Leonardo

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2016

Language:

english

File:

PDF, 308 KB

english, 2016

33

Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1

Lucchetta, Marta, Manara, Renzo, Perilongo, Giorgio, Clementi, Maurizio, Trevisson, Eva

Journal:

La Radiologia Medica

Year:

2016

Language:

english

File:

PDF, 520 KB

english, 2016

34

Coenzyme Q deficiency in muscle

Trevisson, Eva, DiMauro, Salvatore, Navas, Placido, Salviati, Leonardo

Journal:

Current Opinion in Neurology

Year:

2011

Language:

english

File:

PDF, 287 KB

english, 2011

35

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

Yubero, Delia, Montero, Raquel, Martín, Miguel A., Montoya, Julio, Ribes, Antonia, Grazina, Manuela, Trevisson, Eva, Rodriguez-Aguilera, Juan Carlos, Hargreaves, Iain P., Salviati, Leonardo, Navas, Pl

Journal:

Year:

2016

File:

PDF, 456 KB

2016

36

Alport syndrome: impact of digenic inheritance in patients management

Fallerini, Chiara, Baldassarri, Margherita, Trevisson, Eva, Morbidoni, Valeria, La Manna, Angela, Lazzarin, Roberta, Pasini, Andrea, Barbano, Giancarlo, Pinciaroli, Angela Rosa, Garosi, Guido, Frullan

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 1.29 MB

english, 2016

37

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome

Cassina, Matteo, Cerqua, Cristina, Rossi, Silvia, Salviati, Leonardo, Martini, Alessandro, Clementi, Maurizio, Trevisson, Eva

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.42 MB

english, 2017

38

Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants

Gigante, M., Diella, S., Santangelo, L., Trevisson, E., Acosta, M.J., Amatruda, M., Finzi, G., Caridi, G., Murer, L., Accetturo, M., Ranieri, E., Ghiggeri, G.M., Giordano, M., Grandaliano, G., Salviat

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

39

RETINAL VASCULAR ABNORMALITIES IN A LARGE COHORT OF PATIENTS AFFECTED BY NEUROFIBROMATOSIS TYPE 1

Parrozzani, Raffaele, Pilotto, Elisabetta, Clementi, Maurizio, Frizziero, Luisa, Leonardi, Francesca, Convento, Enrica, Miglionico, Giacomo, Pulze, Serena, Perrini, Pierdavide, Trevisson, Eva, Cassina

Journal:

Year:

2017

Language:

english

File:

PDF, 920 KB

english, 2017

40

Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1

Trevisson, Eva, Cassina, Matteo, Opocher, Enrico, Vicenzi, Virginia, Lucchetta, Marta, Parrozzani, Raffaele, Miglionico, Giacomo, Mardari, Rodica, Viscardi, Elisabetta, Midena, Edoardo, Clementi, Maur

Journal:

Journal of Neuro-Oncology

Year:

2017

Language:

english

File:

PDF, 649 KB

english, 2017

41

Numerical activities of daily living in adults with neurofibromatosis type 1

Burgio, F., Benavides-Varela, S., Arcara, G., Trevisson, E., Frizziero, D., Clementi, M., Semenza, C.

Journal:

Journal of Intellectual Disability Research

Year:

2017

Language:

english

File:

PDF, 257 KB

english, 2017

42

Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence?

Sperotto, F., Bisogno, G., Opocher, E., Rossi, S., Rigon, C., Trevisson, E., Mercolini, F.

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 493 KB

english, 2017

43

Intérêt de la distinction de deux formes cliniques de mycosis fongoïde folliculotrope : analyse dans deux centres de référence

Trevisson, C., Ram-Wolff, C., Quaglino, P., Battistella, M., Vignon-Pennamen, M.-D., Rivet, J., Tomasini, C.F., Novelli, M., Fierro, M.T., Bagot, M.

Journal:

Annales de Dermatologie et de Vénéréologie

Year:

2017

Language:

french

File:

PDF, 78 KB

french, 2017

44

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2

Cerqua, Cristina, Morbidoni, Valeria, Desbats, Maria Andrea, Doimo, Mara, Frasson, Chiara, Sacconi, Sabrina, Baldoin, Maria Cristina, Sartori, Geppo, Basso, Giuseppe, Salviati, Leonardo, Trevisson, Ev

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2018

Language:

english

File:

PDF, 1.03 MB

english, 2018

45

Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration

Parrozzani, Raffaele, Leonardi, Francesca, Frizziero, Luisa, Trevisson, Eva, Clementi, Maurizio, Pilotto, Elisabetta, Fusetti, Stefano, Miglionico, Giacomo, Midena, Edoardo

Journal:

Ophthalmology Retina

Year:

2018

Language:

english

File:

PDF, 2.81 MB

english, 2018

46

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Imperatore, Valentina, Pinto, Anna Maria, Gelli, Elisa, Trevisson, Eva, Morbidoni, Valeria, Frullanti, Elisa, Hadjistilianou, Theodora, De Francesco, Sonia, Toti, Paolo, Gusson, Elena, Roversi, Gaia,

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 1.31 MB

english, 2018

47

Clinical syndromes associated with Coenzyme Q 10 deficiency

Alcázar-Fabra, María, Trevisson, Eva, Brea-Calvo, Gloria

Journal:

Essays in Biochemistry

Year:

2018

Language:

english

File:

PDF, 1.35 MB

english, 2018

48

Optical Coherence Tomography in the Diagnosis of Optic Pathway Gliomas

Parrozzani, Raffaele, Clementi, Maurizio, Kotsafti, Olympia, Miglionico, Giacomo, Trevisson, Eva, Orlando, Gloria, Pilotto, Elisabetta, Midena, Edoardo

Journal:

Investigative Opthalmology & Visual Science

Year:

2013

Language:

english

File:

PDF, 817 KB

english, 2013

49

In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients

Parrozzani, Raffaele, Clementi, Maurizio, Frizziero, Luisa, Miglionico, Giacomo, Perrini, Pierdavide, Cavarzeran, Fabiano, Kotsafti, Olympia, Comacchio, Francesco, Trevisson, Eva, Convento, Enrica, Fu

Journal:

Investigative Opthalmology & Visual Science

Year:

2015

Language:

english

File:

PDF, 380 KB

english, 2015

50

Correlation of peripapillary retinal nerve fibre layer thickness with visual acuity in paediatric patients affected by optic pathway glioma

Parrozzani, Raffaele, Miglionico, Giacomo, Leonardi, Francesca, Pulze, Serena, Trevisson, Eva, Clementi, Maurizio, Opocher, Enrico, Licata, Viviana, Viscardi, Elisabetta, Pilotto, Elisabetta, Frizzier

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2018

Language:

english

File:

PDF, 302 KB

english, 2018

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