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1

Carnitine stimulation of pyruvate dehydrogenase complex (PDHC) in isolated human skeletal muscle mitochondria

Dr. Graziella Uziel, Barbara Garavaglia, Stefano Di Donato

Journal:

Year:

1988

Language:

english

File:

PDF, 1016 KB

english, 1988

2

Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?

Claudia Rubie, Peter Lichtner, Jutta Gärtner, Markus Siekiera, Graziella Uziel, Bernd Kohlmann, Alfried Kohlschütter, Thomas Meitinger, Gerald Stöber, Thomas Bettecken

Journal:

Year:

2003

Language:

english

File:

PDF, 174 KB

english, 2003

3

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

Maria Pia Cosma, Stefano Pepe, Giancarlo Parenti, Carmine Settembre, Ida Annunziata, Richard Wade-Martins, Carmela Di Domenico, Paola Di Natale, Anuj Mankad, Barbara Cox, Graziella Uziel, Grazia M.S.

Journal:

Year:

2004

Language:

english

File:

PDF, 233 KB

english, 2004

4

Molecular Genetic Analysis of thePLP1Gene in 38 Families withPLP1-related disorders: Identification and Functional Characterization of 11 NovelPLP1Mutations

Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug-Tanguy, Alessandro Simonati, Fabio Corsolini, Ercan Demir, Valentina Mar

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 454 KB

english, 2011

5

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Scheper, Gert C, van der Klok, Thom, van Andel, Rob J, van Berkel, Carola G M, Sissler, Marie, Smet, Joél, Muravina, Tatjana I, Serkov, Sergey V, Uziel, Graziella, Bugiani, Marianna

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 294 KB

english, 2007

6

Identification of novel mutations in five patients with mitochondrial encephalomyopathy

Lucia Valente, Daniela Piga, Eleonora Lamantea, Franco Carrara, Graziella Uziel, Paola Cudia, Anna Zani, Laura Farina, Lucia Morandi, Marina Mora, Antonella Spinazzola, Massimo Zeviani, Valeria Tirant

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2009

Language:

english

File:

PDF, 1.79 MB

english, 2009

7

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in Apoptosis Inducing Factor 1

Daniele Ghezzi⁎, Irina Sevrioukova, Federica Invernizzi, Costanza Lamperti, Marina Mora, Pio D'Adamo, Francesca Novara, Orsetta Zuffardi, Graziella Uziel, Massimo Zeviani

Journal:

Year:

2011

Language:

english

File:

PDF, 63 KB

english, 2011

8

Double-trouble in pediatric neurology: Myotonia congenita combined with charcot-marie-tooth disease type 1a

Ardissone, Anna, Brugnoni, Raffaella, Gandioli, Claudia, Milani, Micaela, Ciano, Claudia, Uziel, Graziella, Moroni, Isabella

Journal:

Year:

2014

Language:

english

File:

PDF, 574 KB

english, 2014

9

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

Fecarotta, Simona, Romano, Alfonso, Della Casa, Roberto, Del Giudice, Ennio, Bruschini, Diana, Mansi, Giuseppina, Bembi, Bruno, Dardis, Andrea, Fiumara, Agata, Di Rocco, Maja, Uziel, Graziella, Ardiss

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.39 MB

english, 2015

10

Quantitative MRI of the spinal cord and brain in adrenomyeloneuropathy: in vivo assessment of structural changes

Castellano, Antonella, Papinutto, Nico, Cadioli, Marcello, Brugnara, Gianluca, Iadanza, Antonella, Scigliuolo, Graziana, Pareyson, Davide, Uziel, Graziella, Köhler, Wolfgang, Aubourg, Patrick, Falini,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.00 MB

english, 2016

11

MRI in Leigh syndrome with SURF1 gene mutation

Mario Savoiardo, Massimo Zeviani, Graziella Uziel, Laura Farina

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 61 KB

english, 2002

12

X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8

Alberto Bizzi, Marianna Bugiani, Gajja S. Salomons, Donald H. Hunneman, Isabella Moroni, Margherita Estienne, Ugo Danesi, Cornelis Jakobs, Graziella Uziel

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 2.70 MB

english, 2002

13

Phenotypic characterization of hypomyelination and congenital cataract

Roberta Biancheri, Federico Zara, Claudio Bruno, Andrea Rossi, Laura Bordo, Elisabetta Gazzerro, Federica Sotgia, Marina Pedemonte, Sara Scapolan, Massimo Bado, Graziella Uziel, Marianna Bugiani, Laur

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 284 KB

english, 2007

14

Cytochrome c oxidase deficiency in leigh syndrome

Dr Salvatore DiMauro, Serenella Servidei, Massimo Zeviani, Maja DiRocco, Darryl C. DeVivo, Stefano DiDonato, Graziella Uziel, Kenneth Berry, George Hoganson, Stanley D. Johnsen, Peter C. Johnson

Journal:

Annals of Neurology

Year:

1987

Language:

english

File:

PDF, 1.08 MB

english, 1987

15

Normalization of short-chain acylcoenzyme a dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme a dehydrogenase—deficient myopathy

Dr. Stefano Didonato, Cinzia Gellera, Dionisio Peluchetti, Graziella Uziel, Antonella Antonelli, Giacomo Lus, Marco Rimoldi

Journal:

Annals of Neurology

Year:

1989

Language:

english

File:

PDF, 867 KB

english, 1989

16

Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles

Serena Grossi, Stefano Regis, Camillo Rosano, Fabio Corsolini, Graziella Uziel, Maria Sessa, Maja Di Rocco, Giancarlo Parenti, Federica Deodato, Vincenzo Leuzzi, Roberta Biancheri, Mirella Filocamo

Journal:

Year:

2008

Language:

english

File:

PDF, 156 KB

english, 2008

17

Rhythmic cortical myoclonus in Niemann–Pick disease type C

Laura Canafoglia, Marianna Bugiani, Graziella Uziel, Bernardo Dalla Bernardina, Claudia Ciano, Vidmer Scaioli, Giuliano Avanzini, Silvana Franceschetti, Ferruccio Panzica

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 117 KB

english, 2006

18

Characterization of severe action myoclonus in sialidoses

Laura Canafoglia, Silvana Franceschetti, Graziella Uziel, Claudia Ciano, Vidmer Scaioli, Renzo Guerrini, Elisa Visani, Ferruccio Panzica

Journal:

Epilepsy Research

Year:

2011

Language:

english

File:

PDF, 518 KB

english, 2011

19

Localization of DNA probes tightly linked to the Friedreich's ataxia locus by in situ hybridization in a case of pericentric inversion of chromosome 9

Elena Raimondi, Pia Bernasconi, Daniela Moralli, Riccardo Fujita, Graziella Uziel, Stefano Donato, Luigi Carli, Massimo Pandolfo

Journal:

Year:

1991

Language:

english

File:

PDF, 357 KB

english, 1991

20

Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: A morphological, biochemical and molecular-genetic study

Caterina Mariotti, Graziella Uziel, Franco Carrara, Marina Mora, Alessandro Prelle, Valeria Tiranti, Stefano DiDonato, Massimo Zeviani

Journal:

Journal of Neurology

Year:

1995

Language:

english

File:

PDF, 1016 KB

english, 1995

21

Experience with leukodystrophy patients in Milan

Graziella Uziel

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Year:

1996

Language:

english

File:

PDF, 116 KB

english, 1996

22

Glutaric aciduria type II

Graziella Uziel

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Year:

1996

Language:

english

File:

PDF, 166 KB

english, 1996

23

Molecular analysis ofNPC1andNPC2gene in 34 Niemann–Pick C Italian Patients: identification and structural modeling of novel mutations

Tatiana Fancello, Andrea Dardis, Camillo Rosano, Patrizia Tarugi, Barbara Tappino, Stefania Zampieri, Elisa Pinotti, Fabio Corsolini, Simona Fecarotta, Adele D’Amico, Maja Di Rocco, Graziella Uziel, S

Journal:

Year:

2009

Language:

english

File:

PDF, 1.02 MB

english, 2009

24

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients

Barbara Castellotti, Caterina Mariotti, Marco Rimoldi, Roberto Fancellu, Massimo Plumari, Sara Caimi, Graziella Uziel, Nardo Nardocci, Isabella Moroni, Giovanna Zorzi, Davide Pareyson, Daniela Di Bell

Journal:

Year:

2011

Language:

english

File:

PDF, 329 KB

english, 2011

25

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Ghezzi, Daniele, Goffrini, Paola, Uziel, Graziella, Horvath, Rita, Klopstock, Thomas, Lochmüller, Hanns, D'Adamo, Pio, Gasparini, Paolo, Strom, Tim M, Prokisch, Holger

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 281 KB

english, 2009

26

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Haack, Tobias B, Danhauser, Katharina, Haberberger, Birgit, Hoser, Jonathan, Strecker, Valentina, Boehm, Detlef, Uziel, Graziella, Lamantea, Eleonora, Invernizzi, Federica, Poulton, Joanna

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 478 KB

english, 2010

27

Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

Daniele Ghezzi, Irina Sevrioukova, Federica Invernizzi, Costanza Lamperti, Marina Mora, Pio D'Adamo, Francesca Novara, Orsetta Zuffardi, Graziella Uziel, Massimo Zeviani

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 1.42 MB

english, 2010

28

Effects of riboflavin in children with complex II deficiency

Marianna Bugiani, Eleonora Lamantea, Federica Invernizzi, Isabella Moroni, Alberto Bizzi, Massimo Zeviani, Graziella Uziel

Journal:

Brain and Development

Year:

2006

Language:

english

File:

PDF, 270 KB

english, 2006

29

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun

JOHN H LIVINGSTON, CLAUDIO GRAZIANO, KAREN PYSDEN, YANICK J CROW, SANTOSH R MORDEKAR, ISABELLA MORONI, GRAZIELLA UZIEL

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 177 KB

english, 2012

30

Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I

Christiane Busquets, Mercedes Soriano, Isabel Tavares de Almeida, Barbara Garavaglia, Marco Rimoldi, Isabel Rivera, Graziella Uziel, Aguinaldo Cabral, M.Josep Coll, Antonia Ribes

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 33 KB

english, 2000

31

Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy

Graziella Uziel, Barbara Garavaglia, Elisa Ciceri, Isabella Moroni, Marco Rimoldi

Journal:

Pediatric Neurology

Year:

1995

Language:

english

File:

PDF, 273 KB

english, 1995

32

Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities

Marina Mora, Isabella Moroni, Graziella Uziel, Claudia Di Blasi, Rita Barresi, Laura Farina, Lucia Morandi

Journal:

Neuromuscular Disorders

Year:

1996

Language:

english

File:

PDF, 302 KB

english, 1996

33

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

Rossella Parini, Francesca Furlan, Luigi Notarangelo, Antonella Spinazzola, Graziella Uziel, Pietro Strisciuglio, Daniela Concolino, Carlo Corbetta, Gabriella Nebbia, Francesca Menni, Giorgio Rossi, M

Journal:

Journal of Hepatology

Year:

2009

Language:

english

File:

PDF, 384 KB

english, 2009

34

52. Long term outcome of haematopoietic stem cell transplantation (HCT) in 11 Hurler patients (MPS IH)

Francesca Furlan, Attilio Rovelli, Paola Corti, Graziella Uziel, Pierluigi Russo, Erik Sganzerla, Alessio Gamba, Elena Piozzi, Maurizio De Pellegrin, Rossella Parini

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 55 KB

english, 2010

35

Neuromuscular syndrome associated with the 3291T→C mutation of mitochondrial DNA: a second case

Graziella Uziel, Franco Carrara, Tiziana Granata, Eleonora Lamantea, Marina Mora, Massimo Zeviani

Journal:

Neuromuscular Disorders

Year:

2000

Language:

english

File:

PDF, 407 KB

english, 2000

36

Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey

Carlo Dionisi-Vici, Cristiano Rizzo, Alberto B. Burlina, Ubaldo Caruso, Gaetano Sabetta, Graziella Uziel, Damiano Abeni

Journal:

The Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 136 KB

english, 2002

37

Effectiveness of valproate for the treatment of manic-like behavior in X-linked adrenoleukodystrophy

Ettore Salsano, Orsola Gambini, Anna Rita Giovagnoli, Laura Farina, Graziella Uziel, Davide Pareyson

Journal:

Neurological Sciences

Year:

2012

Language:

english

File:

PDF, 194 KB

english, 2012

38

Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study

Ciccolella, Marianna, Catteruccia, Michela, Benedetti, Sabina, Moroni, Isabella, Uziel, Graziella, Pantaleoni, Chiara, Chiapparini, Luisa, Bizzi, Alberto, D’Amico, Adele, Fattori, Fabiana, Salsano, Ma

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 801 KB

english, 2012

39

Infantile mitochondrial encephalopathy

Graziella Uziel, Daniele Ghezzi, Massimo Zeviani

Journal:

Seminars in Fetal and Neonatal Medicine

Year:

2011

Language:

english

File:

PDF, 370 KB

english, 2011

40

Two novel frameshift mutations in the adrenoleukodystrophy gene in Italian patients

Macarena Gomez-Lira, Chiara Perusi, Monica Mottes, Pier Franco Pignatti, Graziella Uziel, Nicolò Rizzuto, Alessandro Salviati

Journal:

Journal of the Neurological Sciences

Year:

1999

Language:

english

File:

PDF, 261 KB

english, 1999

41

Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant

Ana Potic, Aleksandra M. Pavlovic, Graziella Uziel, Dusko Kozic…

Journal:

Journal of Neurology

Year:

2013

Language:

english

File:

PDF, 328 KB

english, 2013

42

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients withGLIALCAMmutations

Arnedo, Tanit, Aiello, Chiara, Jeworutzki, Elena, Dentici, Maria Lisa, Uziel, Graziella, Simonati, Alessandro, Pusch, Michael, Bertini, Enrico, Estévez, Raúl

Journal:

Year:

2014

Language:

english

File:

PDF, 435 KB

english, 2014

43

Mitochondrial dysfunction in central nervous system white matter disorders

Morató, Laia, Bertini, Enrico, Verrigni, Daniela, Ardissone, Anna, Ruiz, Montse, Ferrer, Isidre, Uziel, Graziella, Pujol, Aurora

Journal:

Year:

2014

Language:

english

File:

PDF, 885 KB

english, 2014

44

l -2-Hydroxyglutaric Aciduria: Pattern of MR Imaging Abnormalities in 56 Patients 1

Steenweg, Marjan E., Salomons, Gajja S., Yapici, Zuhal, Uziel, Graziella, Scalais, Emmanuel, Zafeiriou, Dimitrios I., Ruiz-Falco, Maria L., Mejaški-Bošnjak, Vlatka, Augoustides-Savvopoulou, Persephone

Journal:

Year:

2009

Language:

english

File:

PDF, 359 KB

english, 2009

45

Molecular Characterization of Inherited Carnitine Palmitoyltransferase II Deficiency

Franco Taroni, Elisabetta Verderio, Stefania Fiorucci, Patrizia Cavadini, Gaetano Finocchiaro, Graziella Uziel, Eleonora Lamantea, Cinzia Gellera and Stefano DiDonato

Journal:

Proceedings of the National Academy of Sciences

Year:

1992

Language:

english

File:

PDF, 1.12 MB

english, 1992

46

LAMA2 Gene Analysis in Congenital Muscular Dystrophy

Di Blasi, Claudia, Piga, Daniela, Brioschi, Paolo, Moroni, Isabella, Pini, Antonella, Ruggieri, Alessandra, Zanotti, Simona, Uziel, Graziella, Jarre, Laura, Della Giustina, Elvio, Scuderi, Carmela, Jo

Journal:

Archives of Neurology

Year:

2005

Language:

english

File:

PDF, 223 KB

english, 2005

47

Fatty acid mitochondrial β-oxidation and hypoglycaemia in children

Taroni, Franco, Uziel, Graziella

Journal:

Current Opinion in Neurology

Year:

1996

File:

PDF, 1.31 MB

1996

48

Experience on Therapy of Adrenoleukodystrophy and Adrenomyeloneuropathy

Uziel, Graziella, Bertini, Enrico, Bardelli, Patrizia, Rimoldi, Marco, Gambetti, Monica

Journal:

Developmental Neuroscience

Year:

1991

Language:

english

File:

PDF, 929 KB

english, 1991