Diana Frattini

Publications (12)

A highly unusual case of osmotic demyelination syndrome and extrapontine myelinolysis in a 3-month-old infant with Bartter syndrome.

The Journal of international medical research

Avec: Giancarlo Gargano , Marco Manfredi , Simona Pedori , Francesco Di Dio , Carlotta Spagnoli , Daniele Frattini

Soft Materials for Wearable/Flexible Electrochemical Energy Conversion, Storage, and Biosensor Devices.

Materials (Basel, Switzerland)

Avec: Patrizia Bocchetta , Domenico Frattini , Srabanti Ghosh , Allibai Mohanan Vinu Mohan , Yogesh Kumar , Yongchai Kwon

Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.

American journal of medical genetics. Part A

Avec: Susanna Rizzi , Carlotta Spagnoli , Grazia Gabriella Salerno , Daniele Frattini , Stefano Giuseppe Caraffi , Gabriele Trimarchi , Claudio Moratti , Rosario Pascarella , Livia Garavelli , Carlo Fusco

Beneficial effects of the ketogenic diet on drug-resistant epileptic encephalopathy associated with a de novo NBEA pathogenic variant.

Epileptic disorders : international epilepsy journal with videotape

Avec: Silvia Schiavoni , Carlotta Spagnoli , Susanna Rizzi , Grazia Gabriella Salerno , Daniele Frattini , Francesco Pisani , Carlo Fusco

Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature.

American journal of medical genetics. Part A

Avec: Chiara Brugnoli , Susanna Rizzi , Carlo Alberto Cesaroni , Carlotta Spagnoli , Giovanna Pregnolato , Stefano Giuseppe Caraffi , Manuela Napoli , Rosario Pascarella , Roberta Zuntini , Francesca Peluso , Livia Garavelli , Eleonora Chiarotto , Alberta Leon , Daniele Frattini , Carlo Fusco

Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.

Cerebellum (London, England)

Avec: Carlo Alberto Cesaroni , Giulia Pisanò , Gabriele Trimarchi , Stefano Giuseppe Caraffi , Giulia Scandolo , Martina Gnazzo , Daniele Frattini , Carlotta Spagnoli , Susanna Rizzi , Claudia Dittadi , Giulia Sigona , Livia Garavelli , Carlo Fusco

Aromatic L-Amino-Acid Decarboxylase Deficiency Screening by Analysis of 3-O-Methyldopa in Dried Blood Spots: Results of a Multicentric Study in Neurodevelopmental Disorders.

Genes

Avec: Susanna Rizzi , Carlotta Spagnoli , Melissa Bellini , Carlo Alberto Cesaroni , Elisabetta Spezia , Patrizia Bergonzini , Elisa Caramaschi , Luca Soliani , Emanuela Claudia Turco , Benedetta Piccolo , Laura Demuth , Duccio Maria Cordelli , Giacomo Biasucci , Daniele Frattini , Carlo Fusco

Long-term follow-up in infantile-onset SCAR18: A case report.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

Avec: Alessandro Iodice , Carlotta Spagnoli , Margherita Cangini , Luca Soliani , Susanna Rizzi , Grazia Gabriella Salerno , Daniele Frattini , Francesco Pisani , Carlo Fusco

Further delineation of PIGB-related early infantile epileptic encephalopathy.

European journal of medical genetics

Avec: Silvia Schiavoni , Carlotta Spagnoli , Susanna Rizzi , Grazia Gabriella Salerno , Daniele Frattini , Patrizia Bergonzini , Francesco Pisani , Carlo Fusco

A Novel Family with Demyelinating Charcot-Marie-Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the Literature.

Children (Basel, Switzerland)

Avec: Margherita Baga , Susanna Rizzi , Carlotta Spagnoli , Daniele Frattini , Francesco Pisani , Carlo Fusco

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum.

Brain & development

Avec: A Iodice , M Carecchio , G Zorzi , B Garavaglia , C Spagnoli , G G Salerno , D Frattini , N E Mencacci , F Invernizzi , L Veneziano , E Mantuano , M Angriman , C Fusco

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Genes

Avec: Marzia Pollazzon , Stefano Giuseppe Caraffi , Silvia Faccioli , Simonetta Rosato , Heidi Fodstad , Belinda Campos-Xavier , Emanuele Soncini , Giuseppina Comitini , Daniele Frattini , Teresa Grimaldi , Maria Marinelli , Davide Martorana , Antonio Percesepe , Silvia Sassi , Carlo Fusco , Giancarlo Gargano , Andrea Superti-Furga , Livia Garavelli

Réseau de co-auteurs

Daniele Frattini 10 collaborations

Carlotta Spagnoli 9 collaborations

Carlo Fusco 9 collaborations

Susanna Rizzi 8 collaborations

Grazia Gabriella Salerno 4 collaborations

Stefano Giuseppe Caraffi 4 collaborations

Livia Garavelli 4 collaborations

Francesco Pisani 4 collaborations

Carlo Alberto Cesaroni 3 collaborations

Giancarlo Gargano 2 collaborations

Gabriele Trimarchi 2 collaborations

Rosario Pascarella 2 collaborations

Silvia Schiavoni 2 collaborations

Patrizia Bergonzini 2 collaborations

Luca Soliani 2 collaborations

Marco Manfredi 1 collaboration

Simona Pedori 1 collaboration

Francesco Di Dio 1 collaboration

Patrizia Bocchetta 1 collaboration

Domenico Frattini 1 collaboration

Srabanti Ghosh 1 collaboration

Allibai Mohanan Vinu Mohan 1 collaboration

Yogesh Kumar 1 collaboration

Yongchai Kwon 1 collaboration

Claudio Moratti 1 collaboration

Chiara Brugnoli 1 collaboration

Giovanna Pregnolato 1 collaboration

Manuela Napoli 1 collaboration

Roberta Zuntini 1 collaboration

Francesca Peluso 1 collaboration

Eleonora Chiarotto 1 collaboration

Alberta Leon 1 collaboration

Giulia Pisanò 1 collaboration

Giulia Scandolo 1 collaboration

Martina Gnazzo 1 collaboration

Claudia Dittadi 1 collaboration

Giulia Sigona 1 collaboration

Melissa Bellini 1 collaboration

Elisabetta Spezia 1 collaboration

Elisa Caramaschi 1 collaboration

Emanuela Claudia Turco 1 collaboration

Benedetta Piccolo 1 collaboration

Laura Demuth 1 collaboration

Duccio Maria Cordelli 1 collaboration

Giacomo Biasucci 1 collaboration

Alessandro Iodice 1 collaboration

Margherita Cangini 1 collaboration

Margherita Baga 1 collaboration

A Iodice 1 collaboration

M Carecchio 1 collaboration

G Zorzi 1 collaboration

B Garavaglia 1 collaboration

C Spagnoli 1 collaboration

G G Salerno 1 collaboration

D Frattini 1 collaboration

N E Mencacci 1 collaboration

F Invernizzi 1 collaboration

L Veneziano 1 collaboration

E Mantuano 1 collaboration

M Angriman 1 collaboration

C Fusco 1 collaboration

Marzia Pollazzon 1 collaboration

Silvia Faccioli 1 collaboration

Simonetta Rosato 1 collaboration

Heidi Fodstad 1 collaboration

Belinda Campos-Xavier 1 collaboration

Emanuele Soncini 1 collaboration

Giuseppina Comitini 1 collaboration

Teresa Grimaldi 1 collaboration

Maria Marinelli 1 collaboration

Davide Martorana 1 collaboration

Antonio Percesepe 1 collaboration

Silvia Sassi 1 collaboration

Andrea Superti-Furga 1 collaboration