Roberta Biancheri: search on Z-Library

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1

Imaging in spine and spinal cord malformations

Andrea Rossi, Roberta Biancheri, Armando Cama, Gianluca Piatelli, Marcello Ravegnani, Paolo Tortori-Donati

Journal:

European Journal of Radiology

Year:

2004

Language:

english

File:

PDF, 1.50 MB

english, 2004

2

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

3

The genotypic and phenotypic spectrum of PIGA deficiency

Tarailo-Graovac, Maja, Sinclair, Graham, Stockler-Ipsiroglu, Sylvia, Van Allen, Margot, Rozmus, Jacob, Shyr, Casper, Biancheri, Roberta, Oh, Tracey, Sayson, Bryan, Lafek, Mirafe, Ross, Colin J, Robins

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.72 MB

english, 2015

4

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Paola S. Denora, David Schlesinger, Carlo Casali, Fernando Kok, Alessandra Tessa, Amir Boukhris, Hamid Azzedine, Maria Teresa Dotti, Claudio Bruno, Jeremy Truchetto, Roberta Biancheri, Estelle Fedirko

Journal:

Year:

2009

Language:

english

File:

PDF, 842 KB

english, 2009

5

AIMP1/p43 Mutation and PMLD

Roberta Biancheri, Andrea Rossi, Federico Zara, Mirella Filocamo

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 38 KB

english, 2011

6

Anti–Glutamic Acid Decarboxylase Limbic Encephalitis Without Epilepsy Evolving Into Dementia With Cerebellar Ataxia

Mirabelli-Badenier, Marisol, Morana, Giovanni, Pinto, Francesca, Uccelli, Antonio, Veneselli, Edvige, Battaglia, Francesca Maria, Biancheri, Roberta, Baglietto, Maria Giuseppina, Vincent, Angela, Manc

Journal:

Archives of Neurology

Year:

2012

Language:

english

File:

PDF, 149 KB

english, 2012

7

Malignant migrating partial seizures in infancy

Edvige Veneselli, Maria Viviana Perrone, Maia Di Rocco, Roberto Gaggero, Roberta Biancheri

Journal:

Epilepsy Research

Year:

2001

Language:

english

File:

PDF, 306 KB

english, 2001

8

Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: Is it useful?

Laura Bergamino, Valeria Capra, Roberta Biancheri, Andrea Rossi, Angela Tacchella, Linda Ambrosini, Masashi Mizuguchi, Makiko Saitoh, Maria Grazia Marazzi

Journal:

Brain and Development

Year:

2012

Language:

english

File:

PDF, 655 KB

english, 2012

9

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients

Tonduti, Davide, Aiello, Chiara, Renaldo, Florence, Dorboz, Imen, Saaman, Simon, Rodriguez, Diana, Fettah, Houda, Elmaleh, Monique, Biancheri, Roberta, Barresi, Sabina, Boccone, Loredana, Orcesi, Simo

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 1019 KB

english, 2015

10

Neurophysiological findings in a case of carbohydrate-deficient glycoprotein (CDG) syndrome type I with phosphomannomutase deficiency

Edvige Veneselli, Roberta Biancheri, Maja Dl Rocco, Silvia Tortorelli

Journal:

European Journal of Paediatric Neurology

Year:

1998

Language:

english

File:

PDF, 549 KB

english, 1998

11

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes

Roberta Biancheri, Antonio Falace, Alessandra Tessa, Marina Pedemonte, Sara Scapolan, Denise Cassandrini, Chiara Aiello, Andrea Rossi, Paolo Broda, Federico Zara, Filippo Maria Santorelli, Carlo Minet

Journal:

Biochemical and Biophysical Research Communications

Year:

2007

Language:

english

File:

PDF, 483 KB

english, 2007

12

Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature

Tassano, Elisa, Biancheri, Roberta, Denegri, Laura, Porta, Simona, Novara, Francesca, Zuffardi, Orsetta, Gimelli, Giorgio, Cuoco, Cristina

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 366 KB

english, 2014

13

Magnetic Resonance Imaging of Spinal Dysraphism

Tortori-Donati, Paolo, Rossi, Andrea, Biancheri, Roberta, Cama, Armando

Journal:

Topics in Magnetic Resonance Imaging

Year:

2001

Language:

english

File:

PDF, 3.03 MB

english, 2001

14

Inferior Olivary Nucleus Involvement in Pediatric Neurodegenerative Disorders: Does It Play a Role in Neuroimaging Pattern-Recognition Approach?

Mirabelli-Badenier, Marisol, Morana, Giovanni, Bruno, Claudio, Di Rocco, Maja, Striano, Pasaquale, De Grandis, Eusa, Veneselli, Edvige, Rossi, Andrea, Biancheri, Roberta

Journal:

Neuropediatrics

Year:

2015

Language:

english

File:

PDF, 154 KB

english, 2015

15

Genetic disorders affecting white matter in the pediatric age

Maja Di Rocco, Roberta Biancheri, Andrea Rossi, Mirella Filocamo, Paolo Tortori-Donati

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2004

Language:

english

File:

PDF, 456 KB

english, 2004

16

Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility

GAIA GIRIBALDI, LAURA DORIA-LAMBA, ROBERTA BIANCHERI, MARIASAVINA SEVERINO, ANDREA ROSSI, FILIPPO M SANTORELLI, CRISTINA SCHIAFFINO, UBALDO CARUSO, FIORELLA PIEMONTE, CLAUDIO BRUNO

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 405 KB

english, 2012

17

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane

Baskin, Jeremy M., Wu, Xudong, Christiano, Romain, Oh, Michael S., Schauder, Curtis M., Gazzerro, Elisabetta, Messa, Mirko, Baldassari, Simona, Assereto, Stefania, Biancheri, Roberta, Zara, Federico,

Journal:

Nature Cell Biology

Year:

2015

Language:

english

File:

PDF, 2.71 MB

english, 2015

18

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

19

Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

Piero Pavone, Martino Ruggieri, Ilaria Lombardo, Jyotsna Sudi, Roberta Biancheri, Danilo Castellano-Chiodo, Andrea Rossi, Gemma Incorpora, Norma J. Nowak, Susan L. Christian, Lorenzo Pavone, William B

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 203 KB

english, 2010

20

Novel mutations inCLN8in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean

Natalia Cannelli, Denise Cassandrini, Enrico Bertini, Pasquale Striano, Lucia Fusco, Roberto Gaggero, Nicola Specchio, Roberta Biancheri, Federico Vigevano, Claudio Bruno, Alessandro Simonati, Federic

Journal:

Year:

2006

Language:

english

File:

PDF, 389 KB

english, 2006

21

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease

Bachetti, Tiziana, Caroli, Francesco, Bocca, Paola, Prigione, Ignazia, Balbi, Pietro, Biancheri, Roberta, Filocamo, Mirella, Mariotti, Caterina, Pareyson, Davide, Ravazzolo, Roberto

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 333 KB

english, 2008

22

Anti-N-methyl-D-Aspartate-Receptor Encephalitis in a Four-Year-Old Girl

Roberta Biancheri, Alice Pessagno, Maria Giuseppina Baglietto, Sarosh R. Irani, Andrea Rossi, Gaia Giribaldi, Marisol Mirabelli Badenier, Angela Vincent, Edvige Veneselli

Journal:

The Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 189 KB

english, 2010

23

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

Roberta Biancheri, Marianna Ciccolella, Andrea Rossi, Alessandra Tessa, Denise Cassandrini, Carlo Minetti, Filippo M. Santorelli

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 356 KB

english, 2009

24

Variant Late Infantile Neuronal Ceroid Lipofuscinosis Because of CLN1 Mutations

Alessandro Simonati, Alessandra Tessa, Bernardo Dalla Bernardina, Roberta Biancheri, Edvige Veneselli, Giulia Tozzi, Maria Bonsignore, Salvatore Grosso, Fiorella Piemonte, Filippo M. Santorelli

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 264 KB

english, 2009

25

Magnetic Resonance Spectroscopy in Metabolic Disorders

Rossi, Andrea, Biancheri, Roberta

Journal:

Neuroimaging Clinics of North America

Year:

2013

Language:

english

File:

PDF, 5.75 MB

english, 2013

26

Cerebellar white matter involvement in Salla disease

Roberta Biancheri, A. Rossi, M. G. Mancini, C. Minetti

Journal:

Year:

2004

Language:

english

File:

PDF, 123 KB

english, 2004

27

A novel homozygous splicing mutation inPSAPgene causes metachromatic leukodystrophy in two Moroccan brothers

Siri, Laura, Rossi, Andrea, Lanza, Federica, Mazzotti, Raffaella, Costa, Anna, Stroppiano, Marina, Gaiero, Alberto, Cohen, Amnon, Biancheri, Roberta, Filocamo, Mirella

Journal:

Year:

2014

Language:

english

File:

PDF, 389 KB

english, 2014

28

Electrical status epilepticus in childhood: treatment with short cycles of high dosage benzodiazepine (preliminary note)

Negri, Maurizio De, Baglietto, Maria Giuseppina, Biancheri, Roberta

Journal:

Brain and Development

Year:

1993

Language:

english

File:

PDF, 134 KB

english, 1993

29

SPG5-related spastic paraplegia and white matter abnormalities

Marianna Ciccolella, Filippo M. Santorelli, Roberta Biancheri, Andrea Rossi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 121 KB

english, 2009

30

Magnetic Resonance Imaging “Tigroid Pattern” in Alexander Disease

Biancheri, Roberta, Rossi, Andrea, Ceccherini, Isabella, Pezzella, Marianna, Prato, Giulia, Striano, Pasquale, Minetti, Carlo

Journal:

Neuropediatrics

Year:

2012

Language:

english

File:

PDF, 121 KB

english, 2012

31

Early-onset Cobalamin C/D Deficiency: Epilepsy and Electroencephalographic Features

Roberta Biancheri, Roberto Cerone, Andrea Rossi, Maria Cristina Schiaffino, Ubaldo Caruso, Giuseppe Minniti, Maria Viviana Perrone, Paolo Tortori-Donati, Edvige Veneselli

Journal:

Year:

2002

Language:

english

File:

PDF, 1.64 MB

english, 2002

32

Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion

Roberta Biancheri, Claudio Bruno, Denise Cassandrini, Enrico Bertini, Filippo M. Santorelli, Andrea Rossi

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 274 KB

english, 2011

33

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations

Pasquale Striano, Nicola Specchio, Roberta Biancheri, Natalia Cannelli, Alessandro Simonati, Denise Cassandrini, Andrea Rossi, Claudio Bruno, Lucia Fusco, Roberto Gaggero, Federico Vigevano, Enrico Be

Journal:

Epilepsy & Behavior

Year:

2007

Language:

english

File:

PDF, 833 KB

english, 2007

34

Hyccin, the Molecule Mutated in the Leukodystrophy Hypomyelination and Congenital Cataract (HCC), Is a Neuronal Protein

Gazzerro, Elisabetta, Baldassari, Simona, Giacomini, Caterina, Musante, Veronica, Fruscione, Floriana, La Padula, Veronica, Biancheri, Roberta, Scarfì, Sonia, Prada, Valeria, Sotgia, Federica, Duncan,

Journal:

Year:

2012

Language:

english

File:

PDF, 1.69 MB

english, 2012

35

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

Roberta Biancheri, Federico Zara, Pasquale Striano, Marina Pedemonte, Denise Cassandrini, Silvia Stringara, Fiore Manganelli, Lucio Santoro, Angelo Schenone, Emilia Bellone, Carlo Minetti

Journal:

Journal of Neurology

Year:

2006

Language:

english

File:

PDF, 52 KB

english, 2006

36

Presence of Delayed Myelination and Macrocephaly in the Sister of a Patient with Vacuolating Leukoencephalopathy with Subcortical Cysts

Biancheri, Roberta, Pisaturo, C., Perrone, M. V., Pessagno, A., Rossi, A., Veneselli, E.

Journal:

Neuropediatrics

Year:

2000

Language:

english

File:

PDF, 639 KB

english, 2000

37

Effect of steroid and high-dose immunoglobulin therapy on opsoclonus-myoclonus syndrome occurring in neuroblastoma

Veneselli, Edvige, Conte, Massimo, Biancheri, Roberta, Acquaviva, Antonio, De Bernardi, Bruno

Journal:

Medical and Pediatric Oncology

Year:

1998

Language:

english

File:

PDF, 21 KB

english, 1998

38

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

39

Anti-N-Methyl-d-aspartate-receptor encephalitis: Cognitive profile in two children

Enzo Iadisernia, Francesca Maria Battaglia, Elena Vanadia, Emanuele Trapolino, Angela Vincent, Roberta Biancheri

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 126 KB

english, 2012

40

Expansion of theQARSdeficiency phenotype with report of a family with isolated supratentorial brain abnormalities

Salvarinova, Ramona, Ye, Cynthia X., Rossi, Andrea, Biancheri, Roberta, Roland, Elke H., Pavlidis, Paul, Ross, Colin J., Tarailo-Graovac, Maja, Wasserman, Wyeth W., van Karnebeek, Clara D. M.

Journal:

Year:

2015

Language:

english

File:

PDF, 2.40 MB

english, 2015

41

Acute post-infectious cerebellar ataxia due to co-infection of human herpesvirus-6 and adenovirus mimicking myositis

Naselli, Aldo, Pala, Giovanna, Cresta, Federico, Finetti, Martina, Biancheri, Roberta, Renna, Salvatore

Journal:

Italian Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 161 KB

english, 2014

42

POMGnT1 Mutations in Congenital Muscular Dystrophy

Biancheri, Roberta, Bertini, Enrico, Falace, Antonio, Pedemonte, Marina, Rossi, Andrea, D’Amico, Adele, Scapolan, Sara, Bergamino, Laura, Petrini, Stefania, Cassandrini, Denise, Broda, Paolo, Manfredi

Journal:

Archives of Neurology

Year:

2006

Language:

english

File:

PDF, 188 KB

english, 2006

43

Hypomyelination and Congenital Cataract

Biancheri, Roberta

Journal:

Archives of Neurology

Year:

2011

Language:

english

File:

PDF, 612 KB

english, 2011

44

Periventricular nodular heterotopia in Smith-Magenis syndrome

Capra, Valeria, Biancheri, Roberta, Morana, Giovanni, Striano, Pasquale, Novara, Francesca, Ferrero, Giovanni Battista, Boeri, Luca, Celle, Maria Elena, Mancardi, Maria Margherita, Zuffardi, Orsetta,

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 503 KB

english, 2014

45

Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations

Pasquale Striano, Maria Margherita Mancardi, Roberta Biancheri, Francesca Madia, Elena Gennaro, Roberta Paravidino, Francesca Beccaria, Giuseppe Capovilla, Bernardo Dalla Bernardina, Francesca Darra,

Journal:

Year:

2007

Language:

english

File:

PDF, 93 KB

english, 2007

46

White matter involvement in a family with a novel PDGFB mutation

Biancheri, Roberta, Severino, Mariasavina, Robbiano, Angela, Iacomino, Michele, Del Sette, Massimo, Minetti, Carlo, Cervasio, Mariarosaria, Del Basso De Caro, Marialaura, Striano, Pasquale, Zara, Fede

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 463 KB

english, 2016

47

Diagnosis of Pelizaeus–Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR

Stefano Regis, Serena Grossi, Susanna Lualdi, Roberta Biancheri, Mirella Filocamo

Journal:

Year:

2005

Language:

english

File:

PDF, 247 KB

english, 2005

48

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

Zara, Federico, Biancheri, Roberta, Bruno, Claudio, Bordo, Laura, Assereto, Stefania, Gazzerro, Elisabetta, Sotgia, Federica, Wang, Xiao Bo, Gianotti, Stefania, Stringara, Silvia

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 291 KB

english, 2006

49

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

50

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping

Biancheri, Roberta, Grossi, Serena, Regis, Stefano, Rossi, Andrea, Corsolini, Fabio, Rossi, Daniela Paola, Cavalli, Pietro, Severino, Mariasavina, Filocamo, Mirella

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 622 KB

english, 2014

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