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1

Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype–phenotype correlation

Yuhuan Wang, Franco Taroni, Barbara Garavaglia, Nicola Longo

Journal:

Year:

2000

Language:

english

File:

PDF, 252 KB

english, 2000

2

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

3

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report

Frattini, Daniele, Nardocci, Nardo, Pascarella, Rosario, Panteghini, Celeste, Garavaglia, Barbara, Fusco, Carlo

Journal:

Brain and Development

Year:

2015

Language:

english

File:

PDF, 356 KB

english, 2015

4

Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency

Vito Iacobazzi, Federica Invernizzi, Silvia Baratta, Roser Pons, Wendy Chung, Barbara Garavaglia, Carlo Dionisi-Vici, Antonia Ribes, Rossella Parini, Maria Dolores Huertas, Susana Roldan, Graziantonio

Journal:

Year:

2004

Language:

english

File:

PDF, 224 KB

english, 2004

5

Global metabolic profiling reveals metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Laura Strittmatter, Valerio Leoni, Giovanna Zorzi, Federica Zibordi, Sabrina Dusi, Barbara Garavaglia, Paola Venco, Claudio Caccia, Amanda L. Souza, Amy Deik, Clary B. Clish, Marco Rimoldi, Emilio Ciu

Journal:

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

6

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

Filippo Maria Santorelli, Barbara Garavaglia…

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 259 KB

english, 2013

7

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

Filocamo, Mirella, Baldo, Chiara, Goldwurm, Stefano, Renieri, Alessandra, Angelini, Corrado, Moggio, Maurizio, Mora, Marina, Merla, Giuseppe, Politano, Luisa, Garavaglia, Barbara, Casareto, Lorena, Br

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 1.25 MB

english, 2013

8

Diagnosis and treatment of pediatric onset isolated dystonia

Zorzi, Giovanna, Carecchio, Miryam, Zibordi, Federica, Garavaglia, Barbara, Nardocci, Nardo

Journal:

European Journal of Paediatric Neurology

Year:

2018

Language:

english

File:

PDF, 631 KB

english, 2018

9

Benign hereditary chorea and deletions outside NKX2-1 : What's the role of MBIP?

Invernizzi, Federica, Zorzi, Giovanna, Legati, Andrea, Coppola, Giovanni, D'Adamo, Pio, Nardocci, Nardo, Garavaglia, Barbara, Ghezzi, Daniele

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 397 KB

english, 2018

10

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature

Ardissone, Anna, Tonduti, Davide, Legati, Andrea, Lamantea, Eleonora, Barone, Rita, Dorboz, Imen, Boespflug-Tanguy, Odile, Nebbia, Gabriella, Maggioni, Marco, Garavaglia, Barbara, Moroni, Isabella, Fa

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1.81 MB

english, 2018

11

Fiber laser welding of AA 5754 in the double lap-joint configuration: process development, mechanical characterization, and monitoring

Garavaglia, Matteo, Demir, Ali GÃ¶khan, Zarini, Stefano, Victor, Brian M., Previtali, Barbara

Journal:

The International Journal of Advanced Manufacturing Technology

Year:

2020

File:

PDF, 3.97 MB

2020

12

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

Monika B. Hartig, Konstanze Hörtnagel, Barbara Garavaglia, Giovanna Zorzi, Tomasz Kmiec, Thomas Klopstock, Kevin Rostasy, Marina Svetel, Vladimir S. Kostic, Markus Schuelke, Evelyn Botz, Adolf Weindl,

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 242 KB

english, 2006

13

Frequency of DYT1 mutation in early onset primary dystonia in Italian patients

Giovanna Zorzi, Barbara Garavaglia, Federica Invernizzi, Floriano Girotti, Paola Soliveri, Massimo Zeviani, Lucia Angelini, Nardo Nardocci

Journal:

Movement Disorders

Year:

2002

Language:

english

File:

PDF, 1.75 MB

english, 2002

14

Analysis of the ϵ-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity

Enza-Maria Valente, Anjum Misbahuddin, Francesco Brancati, Mark R. Placzek, Barbara Garavaglia, Sergio Salvi, Andrea Nemeth, Charles Shaw-Smith, Nardo Nardocci, Anna-Rita Bentivoglio, Alfredo Berardel

Journal:

Movement Disorders

Year:

2003

Language:

english

File:

PDF, 315 KB

english, 2003

15

Clinical and neuropsychological correlates in two brothers with pantothenate kinase–associated neurodegeneration

Cecilia Marelli, Sylvie Piacentini, Barbara Garavaglia, Floriano Girotti, Alberto Albanese

Journal:

Movement Disorders

Year:

2005

Language:

english

File:

PDF, 102 KB

english, 2005

16

Normal cardiovascular reflex testing in patients with parkin disease

Francesca Del Sorbo, Antonio E. Elia, Gabriella De Joanna, Luigi M. Romito, Barbara Garavaglia, Alberto Albanese

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 59 KB

english, 2007

17

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

Oronzo Scarciolla, Francesco Brancati, Enza Maria Valente, Alessandro Ferraris, Maria Vittoria De Angelis, Stefano Valbonesi, Barbara Garavaglia, Antonino Uncini, Giandomenico Palka, Liborio Stuppia,

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 254 KB

english, 2007

18

Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

Nardo Nardocci, Giovanna Zorzi, Chiara Barzaghi, Federica Zibordi, Claudia Ciano, Daniele Ghezzi, Barbara Garavaglia

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 142 KB

english, 2008

19

Late onset sporadic Parkinson's disease caused by PINK1 mutations: Clinical and functional study

Vania Gelmetti, Alessandro Ferraris, Livia Brusa, Francesca Romano, Federica Lombardi, Chiara Barzaghi, Paolo Stanzione, Barbara Garavaglia, Bruno Dallapiccola, Enza Maria Valente

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 153 KB

english, 2008

20

A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome

Cecilia Marelli, Laura Canafoglia, Federica Zibordi, Claudia Ciano, Elisa Visani, Giovanna Zorzi, Barbara Garavaglia, Chiara Barzaghi, Alberto Albanese, Paola Soliveri, Massimo Leone, Ferruccio Panzic

Journal:

Movement Disorders

Year:

2008

Language:

english

File:

PDF, 114 KB

english, 2008

21

Cerebellar and pyramidal dysfunctions, palpebral ptosis and weakness as presenting symptoms of PARK-2

Marianna Amboni, Maria Teresa Pellecchia, Autilia Cozzolino, Marina Picillo, Carmine Vitale, Paolo Barone, Andrea Varrone, Barbara Garavaglia, Simona Gambelli, Antonio Federico

Journal:

Movement Disorders

Year:

2009

Language:

english

File:

PDF, 289 KB

english, 2009

22

Iron-related MRI images in patients with pantothenate kinase–associated neurodegeneration (PKAN) treated with deferiprone: Results of a phase II pilot trial

Giovanna Zorzi, Federica Zibordi, Luisa Chiapparini, Enrico Bertini, Lidia Russo, Antonio Piga, Filomena Longo, Barbara Garavaglia, Domenico Aquino, Mario Savoiardo, Alessandra Solari, Nardo Nardocci

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 1.13 MB

english, 2011

23

Sudden infant death and multiple acyl-CoA dehydrogenation disorders

Rossella Parini, Chiara Vegni, Jvana Martini, Antonino Romeo, Barbara Garavaglia

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 274 KB

english, 1995

24

High frequency stimulation of the subthalamic nucleus is efficacious inParkindisease

Luigi M. A. Romito, Maria F. Contarino, Daniele Ghezzi, Angelo Franzini, Barbara Garavaglia, Alberto Albanese

Journal:

Journal of Neurology

Year:

2005

Language:

english

File:

PDF, 191 KB

english, 2005

25

Barth syndrome presenting with acute metabolic decompensation in the neonatal period

Maria Alice Donati, Sabrina Malvagia, Elisabetta Pasquini, Amelia Morrone, Giancarlo La Marca, Barbara Garavaglia, Daniela Toniolo, Enrico Zammarchi

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 136 KB

english, 2006

26

Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation

Daniela Rossi, Elisa De Grandis, Chiara Barzaghi, Monica Mascaretti, Barbara Garavaglia, Elisabetta Zanotto, Giovanni Morana, Roberta Biancheri

Journal:

Brain and Development

Year:

2012

Language:

english

File:

PDF, 192 KB

english, 2012

27

Early onset primary dystonia

Giovanna Zorzi, Federica Zibordi, Barbara Garavaglia, Nardo Nardocci

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 140 KB

english, 2009

28

C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

Celeste Panteghini, Giovanna Zorzi, Paola Venco, Sabrina Dusi, Chiara Reale, Dario Brunetti, Luisa Chiapparini, Federica Zibordi, Brigitte Siegel, Barbara Garavaglia, Alessandro Simonati, Enrico Berti

Journal:

Seminars in Pediatric Neurology

Year:

2012

Language:

english

File:

PDF, 1.75 MB

english, 2012

29

Purification and properties of carnitine acetyltransferase from human liver

Wilma BLOISI, Irma COLOMBO, Barbara GARAVAGLIA, Roberto GIARDINI, Gaetano FINOCCHIARO, Stefano DIDONATO

Journal:

Year:

1990

Language:

english

File:

PDF, 869 KB

english, 1990

30

cDNA cloning and mitochondrial import of the β-subunit of the human electron-transfer flavoprotein

Gaetano FINOCCHIARO, Irma COLOMBO, Barbara GARAVAGLIA, Cinzia GELLERA, Giulio VALDAMERI, Nicoletta GARBUGLIO, Stefano DIDONATO

Journal:

Year:

1993

Language:

english

File:

PDF, 763 KB

english, 1993

31

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

32

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

33

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

Natalia Cannelli, Barbara Garavaglia, Alessandro Simonati, Chiara Aiello, Chiara Barzaghi, Francesco Pezzini, Maria Roberta Cilio, Roberta Biancheri, Michela Morbin, Bernardo Dalla Bernardina, Tiziana

Journal:

Biochemical and Biophysical Research Communications

Year:

2009

Language:

english

File:

PDF, 314 KB

english, 2009

34

Neurophysiological evaluation of motor corticospinal pathways by TMS in idiopathic early-onset Parkinson’s disease

Anna Perretti, Anna De Rosa, Lucia Marcantonio, Valeria Iodice, Anna Estraneo, Fiore Manganelli, Barbara Garavaglia, Alessandro Filla, Lucio Santoro, Giuseppe De Michele

Journal:

Clinical Neurophysiology

Year:

2011

Language:

english

File:

PDF, 175 KB

english, 2011

35

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Valerio Leoni, Laura Strittmatter, Giovanna Zorzi, Federica Zibordi, Sabrina Dusi, Barbara Garavaglia, Paola Venco, Claudio Caccia, Amanda L. Souza, Amy Deik, Clary B. Clish, Marco Rimoldi, Emilio Ciu

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 926 KB

english, 2012

36

Oral contraceptives and risk of gestational trophoblastic disease

Fabio Parazzini, Sonia Cipriani, Giorgia Mangili, Elena Garavaglia, Paolo Guarnerio, Elena Ricci, Guido Benzi, Barbara Salerio, Giampiero Polverino, Carlo La Vecchia

Journal:

Year:

2002

Language:

english

File:

PDF, 37 KB

english, 2002

37

Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: Use of stress and fat-loading tests

Rossella Parini, Barbara Garavaglia, Jean Marie Saudubray, Patrizia Bardelli, Davide Melotti, Giuseppe Zecca, S. Di Donato

Journal:

The Journal of Pediatrics

Year:

1991

Language:

english

File:

PDF, 332 KB

english, 1991

38

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

Carlo Dionisi-Vici, Barbara Garavaglia, Alberto B. Burlina, Enrico Bertini, Isora Saponara, Gaetano Sabetta, Franco Taroni

Journal:

The Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 387 KB

english, 1996

39

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy

Claudio Bruno, Denise M. Kirby, Yasutoshi Koga, Barbara Garavaglia, Gloria Duran, Filippo M. Santorelli, Lloyd K. Shield, Wenlang Xia, Sara Shanske, Jeffrey D. Goldstein, Rikako Iwanaga, Yukihiro Akit

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 175 KB

english, 1999

40

Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria

M.Teresa García-Silva, Antonia Ribes, Yolanda Campos, Barbara Garavaglia, Joaquin Arenas

Journal:

Pediatric Neurology

Year:

1997

Language:

english

File:

PDF, 587 KB

english, 1997

41

Clinical and molecular heterogeneity in very–long-chain acyl-coenzyme a dehydrogenase deficiency

Roser Pons, Patrizia Cavadini, Silvia Baratta, Federica Invernizzi, Eleonora Lamantea, Barbara Garavaglia, Franco Taroni

Journal:

Pediatric Neurology

Year:

2000

Language:

english

File:

PDF, 76 KB

english, 2000

42

Engineering materials and biology to boost performance of microbial fuel cells: a critical review

Rinaldi, Antonio, Mecheri, Barbara, Garavaglia, Virgilio, Licoccia, Silvia, Di Nardo, Paolo, Traversa, Enrico

Journal:

Energy & Environmental Science

Year:

2008

Language:

english

File:

PDF, 901 KB

english, 2008

43

Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation

Fusco, Carlo, Russo, Angelo, Invernizzi, Federica, Frattini, Daniele, Pisani, Francesco, Garavaglia, Barbara

Journal:

Brain and Development

Year:

2014

Language:

english

File:

PDF, 91 KB

english, 2014

44

Using olive mill wastewater to improve performance in producing electricity from domestic wastewater by using single-chamber microbial fuel cell

Sciarria, Tommy Pepè, Tenca, Alberto, D’Epifanio, Alessandra, Mecheri, Barbara, Merlino, Giuseppe, Barbato, Marta, Borin, Sara, Licoccia, Silvia, Garavaglia, Virgilio, Adani, Fabrizio

Journal:

Bioresource Technology

Year:

2013

Language:

english

File:

PDF, 1.04 MB

english, 2013

45

Editorial Board

Frattini, Daniele, Nardocci, Nardo, Pascarella, Rosario, Panteghini, Celeste, Garavaglia, Barbara, Fusco, Carlo

Journal:

Journal of Dairy Science

Year:

1943

Language:

english

File:

PDF, 45 KB

english, 1943

46

Findings From Bone Marrow Biopsy Pathology Show Plasma Cell Disorders have Smaller Core Lengths; Mastocytosis, Myeloproliferative Disorder, and Chronic Lymphocytic Leukemia have Higher Hemodilution Rates

Ward, Vance, Press, Barbara, Wischmeier, Jim, Cliver, Patty, Garavaglia, Kelly, Wilson, Cheryl, Voelkel, Greg, Eby, Charles

Journal:

Biology of Blood and Marrow Transplantation

Year:

2013

Language:

english

File:

PDF, 68 KB

english, 2013

47

Using Legislative Histories to Determine Legislative Intent in New Jersey

Garavaglia, Barbara H.

Journal:

Legal Reference Services Quarterly

Year:

2011

Language:

english

File:

PDF, 131 KB

english, 2011

48

Running apraxia as a presenting symptom of neuronal ceroid lipofuscinosis 6

Leuzzi, Vincenzo, Garavaglia, Barbara, Manti, Filippo, Bertino, Sara, Nardocci, Nardo

Journal:

Movement Disorders

Year:

2014

Language:

english

File:

PDF, 233 KB

english, 2014

49

Sequence Variations in Mitochondrial Ferritin: Distribution in Healthy Controls and Different Types of Patients

Castiglioni, Emanuela, Finazzi, Dario, Goldwurm, Stefano, Levi, Sonia, Pezzoli, Gianni, Garavaglia, Barbara, Nardocci, Nardo, Malcovati, Luca, Porta, Matteo G. Della, Gallì, Anna, Forni, Gian Luca, Gi

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 117 KB

english, 2010

50

A family with paroxysmal nonkinesigenic dyskinesias (PNKD): Evidence of mitochondrial dysfunction

Ghezzi, Daniele, Canavese, Carlotta, Kovacevic, Gordana, Zamurovic, Dragan, Barzaghi, Chiara, Giorgi, Carlotta, Zorzi, Giovanna, Zeviani, Massimo, Pinton, Paolo, Garavaglia, Barbara, Nardocci, Nardo

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 343 KB

english, 2015