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1

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Astrea, Guja, Romano, Alessandro, Angelini, Corrado, Antozzi, Carlo Giuseppe, Barresi, Rita, Battini, Roberta, Battisti, Carla, Bertini, Enrico, Bruno, Claudio, Cassandrini, Denise, Fanin, Marina, Fat

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 820 KB

english, 2018

2

Central precocious puberty in Klinefelter syndrome: A case report with longitudinal follow-up of growth pattern

Bertelloni, Silvano, Baroncelli, Giampiero I., Battini, Roberta, Saggese, Giuseppe

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 428 KB

english, 1996

3

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation

Roberta Battini, Anna Chilosi, Davide Mei, Manuela Casarano, M. Grazia Alessandrì, Vincenzo Leuzzi, Giovanni Ferretti, Michela Tosetti, M. Cristina Bianchi, Giovanni Cioni

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 102 KB

english, 2007

4

Muscle metabolic alterations assessed by 31-phosphorus magnetic resonance spectroscopy in mild becker muscular dystrophy

Michela Tosetti, Stefania Linsalata, Roberta Battini, Leda Volpi, Claudio Cini, Otello Presciutti, Francesco Muntoni, Giovanni Cioni, Gabriele Siciliano

Journal:

Year:

2011

Language:

english

File:

PDF, 350 KB

english, 2011

5

Brain Magnetic Resonance in the Diagnostic Evaluation of Mitochondrial Encephalopathies

Maria Cristina Bianchi, Giuseppina Sgandurra, Michela Tosetti, Roberta Battini, Giovanni Cioni

Journal:

Bioscience Reports

Year:

2007

Language:

english

File:

PDF, 540 KB

english, 2007

6

Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency

Annamaria Chilosi, Manuela Casarano, Alessandro Comparini, Francesca Maria Battaglia, Margherita Maria Mancardi, Cristina Schiaffino, Michela Tosetti, Vincenzo Leuzzi, Roberta Battini, Giovanni Cioni

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 5.68 MB

english, 2012

7

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Rice, Gillian I, Park, Sehoon, Gavazzi, Francesco, Adang, Laura A, Ayuk, Loveline A, Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, Billette de Vil

Journal:

Year:

2020

Language:

english

File:

PDF, 612 KB

english, 2020

8

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

Crow, Yanick J, Marshall, Heather, Rice, Gillian I, Seabra, Luis, Jenkinson, Emma M, Baranano, Kristin, Battini, Roberta, Berger, Andrea, Blair, Edward, Blauwblomme, Thomas, Bolduc, Francois, Boddaert

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.80 MB

2020

9

Molecular cytogenetic characterization of a new case of partial trisomy 13 (13q11q13.2)

Veronica Bertini, Roberta Battini, Giovanni Cioni, Paolo Simi, Angelo Valetto

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 229 KB

english, 2010

10

Is hemiplegic cerebral palsy equivalent to amblyopia of the corticospinal system?

Janet A. Eyre, Martin Smith, Lyvia Dabydeen, Gavin J. Clowry, Eliza Petacchi, Roberta Battini, Andrea Guzzetta, Giovanni Cioni

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 762 KB

english, 2007

11

RFT1 deficiency in three novel CDG patients

Wendy Vleugels, Micha A. Haeuptle, Bobby G. Ng, Jean-Claude Michalski, Roberta Battini, Carlo Dionisi-Vici, Mark D. Ludman, Jaak Jaeken, François Foulquier, Hudson H. Freeze, Gert Matthijs, Thierry He

Journal:

Year:

2009

Language:

english

File:

PDF, 322 KB

english, 2009

12

Gas chromatography/mass spectrometry assay for arginine: Glycine–amidinotransferase deficiency

Maria Grazia Alessandrì, Lisa Celati, Roberta Battini, Manuela Casarano, Giovanni Cioni

Journal:

Analytical Biochemistry

Year:

2005

Language:

english

File:

PDF, 133 KB

english, 2005

13

Arginine and glycine stimulate creatine synthesis in creatine transporter 1-deficient lymphoblasts

Vincenzo Leuzzi, Maria G. Alessandrì, Manuela Casarano, Roberta Battini, Giovanni Cioni

Journal:

Analytical Biochemistry

Year:

2008

Language:

english

File:

PDF, 241 KB

english, 2008

14

HPLC assay for guanidinoacetate methyltransferase

Maria Grazia Alessandrı̀, Lisa Celati, Roberta Battini, Fulvia Baldinotti, Chike Item, Vincenzo Leuzzi, Giovanni Cioni

Journal:

Analytical Biochemistry

Year:

2004

Language:

english

File:

PDF, 173 KB

english, 2004

15

Neurodevelopmental disorders in children with severe to profound sensorineural hearing loss: a clinical study

ANNA M CHILOSI, ALESSANDRO COMPARINI, MARIA F SCUSA, STEFANO BERRETTINI, FRANCESCA FORLI, ROBERTA BATTINI, PAOLA CIPRIANI, GIOVANNI CIONI

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 235 KB

english, 2010

16

Short-term effect of testosterone treatment on reduced bone density in boys with constitutional delay of puberty

Silvano Bertelloni, Giampiero I. Baroncelli, Roberta Battini, Giuseppe Perri, Giuseppe Saggese

Journal:

Journal of Bone and Mineral Research

Year:

1995

Language:

english

File:

PDF, 696 KB

english, 1995

17

Does the assessment of general movements without video observation reliably predict neurological outcome?

Andrea Guzzetta, Vittorio Belmonti, Roberta Battini, Antonio Boldrini, Paola Bruna Paolicelli, Giovanni Cioni

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 209 KB

english, 2007

18

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms

Susanna Lualdi, Maja Di Rocco, Fabio Corsolini, Marco Spada, Bruno Bembi, Giovanna Cotugno, Roberta Battini, Marina Stroppiano, Maria Gabriela Pittis, Mirella Filocamo

Journal:

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

Year:

2006

Language:

english

File:

PDF, 203 KB

english, 2006

19

GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings

Anna Caciotti, Scott C. Garman, Yadilette Rivera-Colón, Elena Procopio, Serena Catarzi, Lorenzo Ferri, Carmen Guido, Paola Martelli, Rossella Parini, Daniela Antuzzi, Roberta Battini, Michela Sibilio,

Journal:

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

Year:

2011

Language:

english

File:

PDF, 949 KB

english, 2011

20

Analysis of quantitative ultrasound graphic trace and derived variables assessed at proximal phalanges of the hand in healthy subjects and in patients with cerebral palsy or juvenile idiopathic arthritis.: A pilot study

Giampiero I. Baroncelli, Roberta Battini, Silvano Bertelloni, Elena Brunori, Francesca de Terlizzi, Francesco Vierucci, Paola Cipriani, Giovanni Cioni, Giuseppe Saggese

Journal:

Year:

2010

Language:

english

File:

PDF, 967 KB

english, 2010

21

Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry

Claudia Carducci, Silvia Santagata, Vincenzo Leuzzi, Carla Carducci, Cristiana Artiola, Teresa Giovanniello, Roberta Battini, Italo Antonozzi

Journal:

Clinica Chimica Acta

Year:

2006

Language:

english

File:

PDF, 191 KB

english, 2006

22

Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: Early treatment can prevent phenotypic expression of the disease

Roberta Battini, M. Grazia Alessandrì, Vincenzo Leuzzi, Francesca Moro, Michela Tosetti, Maria C. Bianchi, Giovanni Cioni

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 95 KB

english, 2006

23

Daily salbutamol in young patients with SMA type II

Marika Pane, Susanna Staccioli, Sonia Messina, Adele D’Amico, Marco Pelliccioni, Elena S. Mazzone, Marina Cuttini, Paolo Alfieri, Roberta Battini, Marion Main, Francesco Muntoni, Enrico Bertini, Marce

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 100 KB

english, 2008

24

Movement Disorder-Childhood Rating Scale: Reliability and Validity

Roberta Battini, Giuseppina Sgandurra, Elisa Petacchi, Andrea Guzzetta, Roberta Di Pietro, Maria T. Giannini, Vincenzo Leuzzi, Eugenio Mercuri, Giovanni Cioni

Journal:

Pediatric Neurology

Year:

2008

Language:

english

File:

PDF, 99 KB

english, 2008

25

Scale for Evaluation of Movement Disorders in the First Three Years of Life

Roberta Battini, Andrea Guzzetta, Giuseppina Sgandurra, Roberta Di Pietro, Elisa Petacchi, Eugenio Mercuri, Maria T. Giannini, Vincenzo Leuzzi, Giovanni Cioni

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 236 KB

english, 2009

26

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

Roberta Battini, Vincenzo Leuzzi, Carla Carducci, Michela Tosetti, Maria C Bianchi, Chike B Item, Sylvia Stöckler-Ipsiroglu, Giovanni Cioni

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 121 KB

english, 2002

27

Congenital nystagmus in two infants born from mothers exposed to methadone during pregnancy

Francesca Tinelli, Alessandra Gamucci, Roberta Battini…

Journal:

Italian Journal of Pediatrics

Year:

2013

Language:

english

File:

PDF, 136 KB

english, 2013

28

MECP2duplication phenotype in symptomatic females: report of three further cases

Novara, Francesca, Simonati, Alessandro, Sicca, Federico, Battini, Roberta, Fiori, Simona, Contaldo, Annarita, Criscuolo, Lucia, Zuffardi, Orsetta, Ciccone, Roberto

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 413 KB

english, 2014

29

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Rice, Gillian I, del Toro Duany, Yoandris, Jenkinson, Emma M, Forte, Gabriella M A, Anderson, Beverley H, Ariaudo, Giada, Bader-Meunier, Brigitte, Baildam, Eileen M, Battini, Roberta, Beresford, Micha

Journal:

Nature Genetics

Year:

2014

Language:

english

File:

PDF, 1.65 MB

english, 2014

30

Inborn errors of creatine metabolism and epilepsy

Leuzzi, Vincenzo, Mastrangelo, Mario, Battini, Roberta, Cioni, Giovanni

Journal:

Year:

2013

Language:

english

File:

PDF, 761 KB

english, 2013

31

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy

Pane, Marika, Mazzone, Elena S., Fanelli, Lavinia, De Sanctis, Roberto, Bianco, Flaviana, Sivo, Serena, D’Amico, Adele, Messina, Sonia, Battini, Roberta, Scutifero, Marianna, Petillo, Roberta, Frosini

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 637 KB

english, 2014

32

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia

Fiorillo, Chiara, Moro, Francesca, Astrea, Guja, Morales, Maria Aurora, Baldacci, Jacopo, Marchese, Maria, Scapolan, Sara, Bruno, Claudio, Battini, Roberta, Santorelli, Filippo M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 790 KB

english, 2013

33

Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development

Fiorillo, Chiara, Moro, Francesca, Yi, Julie, Weil, Sarah, Brisca, Giacomo, Astrea, Guja, Severino, Mariasavina, Romano, Alessandro, Battini, Roberta, Rossi, Andrea, Minetti, Carlo, Bruno, Claudio, Sa

Journal:

Year:

2014

Language:

english

File:

PDF, 587 KB

english, 2014

34

Treatment with l -Arginine improves neuropsychological disorders in a child with Creatine transporter defect

Chilosi, Anna, Leuzzi, Vincenzo, Battini, Roberta, Tosetti, Michela, Ferretti, Giovanni, Comparini, Alessandro, Casarano, Manuela, Moretti, Elena, Alessandrì, M. Grazia, Bianchi, M. Cristina, Cioni, G

Journal:

Year:

2008

Language:

english

File:

PDF, 708 KB

english, 2008

35

Responsiveness of the MD-Childhood Rating Scale in dyskinetic cerebral palsy patients undergoing anticholinergic treatment

Battini, Roberta, Casarano, Manuela, Sgandurra, Giuseppina, Olivieri, Ilaria, Di Pietro, Roberta, Romeo, Domenico M., Mercuri, Eugenio, Cioni, Giovanni

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 344 KB

english, 2014

36

Construction and in Vitro Functional Evaluation of a Low-Density Lipoprotein Receptor/Transferrin Fusion Protein as a Therapeutic Tool for Familial Hypercholesterolemia

Parise, Flavia, Simone, Luisa, Croce, Maria Antonietta, Ghisellini, Margherita, Battini, Renata, Borghi, Serena, Tiozzo, Roberta, Ferrari, Sergio, Calandra, Sebastiano, Ferrari, Stefano

Journal:

Human Gene Therapy

Year:

1999

Language:

english

File:

PDF, 448 KB

english, 1999

37

A Diagnostic Dilemma in a Family With Cystinuria Type B Resolved by Muscle Magnetic Resonance

Astrea, Guja, Munteanu, Iulia, Cassandrini, Denise, Lillis, Suzanne, Trovato, Rosanna, Pegoraro, Elena, Cioni, Giovanni, Mercuri, Eugenio, Muntoni, Francesco, Battini, Roberta

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 886 KB

english, 2015

38

[IEEE 2015 IEEE International Symposium on Medical Measurements and Applications (MeMeA) - Torino, Italy (2015.5.7-2015.5.9)] 2015 IEEE International Symposium on Medical Measurements and Applications (MeMeA) Proceedings - A non-invasive method for a quantitative evaluation of muscle involvement in MRI of Neuromuscular Diseases

Fantacci, Maria Evelina, Sottocornola, Chiara, Retico, Alessandra, Astrea, Guja, Battini, Roberta, Tosetti, Michela

Year:

2015

Language:

english

File:

PDF, 901 KB

english, 2015

39

Movement Disorder-Childhood Rating Scale: A Sensitive Tool to Evaluate Movement Disorders

Battini, Roberta, Olivieri, Ilaria, Di Pietro, Roberta, Casarano, Manuela, Sgandurra, Giuseppina, Romeo, Domenico M., Cioni, Giovanni

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 476 KB

english, 2015

40

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test

Pane, Marika, Fanelli, Lavinia, Mazzone, Elena Stacy, Olivieri, Giorgia, D'Amico, Adele, Messina, Sonia, Scutifero, Marianna, Battini, Roberta, Petillo, Roberta, Frosini, Silvia, Sivo, Serena, Vita, G

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 499 KB

english, 2015

41

Proton Magnetic Resonance Spectroscopy (1H-MRS) of the Cerebrum in Two Young Infants with Zellweger Syndrome

Groenendaal, Floris, Cristina Bianchi, Maria, Battini, Roberta, Tosetti, Michela, Boldrini, A., de Vries, Linda S., Cioni, G.

Journal:

Neuropediatrics

Year:

2001

Language:

english

File:

PDF, 345 KB

english, 2001

42

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description

Battini, Roberta, Bertelloni, Silvano, Astrea, Guja, Casarano, Manuela, Travaglini, Lorena, Baroncelli, Giampiero, Pasquariello, Rosa, Bertini, Enrico, Cioni, Giovanni

Journal:

BMC Medical Genetics

Year:

2015

Language:

english

File:

PDF, 2.41 MB

english, 2015

43

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

Stockler-Ipsiroglu, Sylvia, Apatean, Delia, Battini, Roberta, DeBrosse, Suzanne, Dessoffy, Kimberley, Edvardson, Simon, Eichler, Florian, Johnston, Katherine, Koeller, David M., Nouioua, Sonia, Tazir,

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 777 KB

english, 2015

44

FOCAL CORTICAL DYSPLASIA, MICROCEPHALY AND EPILEPSY IN A BOY WITH 1q21.1-q21.3 DUPLICATION

Milone, Roberta, Valetto, Angelo, Battini, Roberta, Bertini, Veronica, Valvo, Giulia, Cioni, Giovanni, Sicca, Federico

Journal:

European Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.28 MB

english, 2016

45

[IEEE 2015 IEEE International Symposium on Medical Measurements and Applications (MeMeA) - Torino, Italy (2015.5.7-2015.5.9)] 2015 IEEE International Symposium on Medical Measurements and Applications (MeMeA) Proceedings - Non-invasive assessment of Neuromuscular Disorders by 7 tesla Magnetic Resonance Imaging and Spectroscopy: Dedicated radio-frequency coil development

Retico, Alessandra, Stara, Riccardo, Fantacci, Maria Evelina, Toncelli, Alessandra, Galante, Angelo, Florio, Tiziana M., Alecci, Marcello, Cosottini, Mirco, Astrea, Guja, Battini, Roberta, Tiberi, Gia

Year:

2015

Language:

english

File:

PDF, 3.93 MB

english, 2015

46

Cognitive, adaptive, and behavioral features in Joubert syndrome

Bulgheroni, Sara, D'Arrigo, Stefano, Signorini, Sabrina, Briguglio, Marilena, Di Sabato, Maria Lucia, Casarano, Manuela, Mancini, Francesca, Romani, Marta, Alfieri, Paolo, Battini, Roberta, Zoppello,

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 233 KB

english, 2016

47

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1

Rubegni, Anna, Pisano, Tiziana, Bacci, Giacomo, Tessa, Alessandra, Battini, Roberta, Procopio, Elena, Giglio, Sabrina, Pasquariello, Rosa, Santorelli, Filippo Maria, Guerrini, Renzo, Nesti, Claudia

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 1.04 MB

english, 2017

48

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5

Simonati, Alessandro, Williams, Ruth E, Nardocci, Nardo, Laine, Minna, Battini, Roberta, Schulz, Angela, Garavaglia, Barbara, Moro, Francesca, Pezzini, Francesco, Santorelli, Filippo M

Journal:

Developmental Medicine & Child Neurology

Year:

2017

Language:

english

File:

PDF, 160 KB

english, 2017

49

Unusual Clinical and Magnetic Resonance Imaging Findings in a Family With Proteolipid Protein Gene Mutation

Battini, Roberta, Bianchi, M. Cristina, Boespflug-Tanguy, Odile, Tosetti, Michela, Bonanni, Paolo, Canapicchi, Raffaello, Cioni, Giovanni

Journal:

Archives of Neurology

Year:

2003

Language:

english

File:

PDF, 202 KB

english, 2003

50

Four years follow up of ACY1 deficient patient and pedigree study

Alessandrì, Maria Grazia, Milone, Roberta, Casalini, Claudia, Nesti, Claudia, Cioni, Giovanni, Battini, Roberta

Journal:

Brain and Development

Year:

2018

Language:

english

File:

PDF, 496 KB

english, 2018