Stefania Magri

Affiliations

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Publications (16)

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

Nature genetics

Avec: Andrea Cortese , Yi Zhu , Adriana P Rebelo , Sara Negri , Steve Courel , Lisa Abreu , Chelsea J Bacon , Yunhong Bai , Dana M Bis-Brewer , Enrico Bugiardini , Elena Buglo , Matt C Danzi , Shawna M E Feely , Alkyoni Athanasiou-Fragkouli , Nourelhoda A Haridy , Auteur inconnu , Rosario Isasi , Alaa Khan , Matilde Laurà , Stefania Magri , Menelaos Pipis , Chiara Pisciotta , Eric Powell , Alexander M Rossor , Paola Saveri , Janet E Sowden , Stefano Tozza , Jana Vandrovcova , Julia Dallman , Elena Grignani , Enrico Marchioni , Steven S Scherer , Beisha Tang , Zhiqiang Lin , Abdullah Al-Ajmi , Rebecca Schüle , Matthis Synofzik , Thierry Maisonobe , Tanya Stojkovic , Michaela Auer-Grumbach , Mohamed A Abdelhamed , Sherifa A Hamed , Ruxu Zhang , Fiore Manganelli , Lucio Santoro , Franco Taroni , Davide Pareyson , Henry Houlden , David N Herrmann , Mary M Reilly , Michael E Shy , R Grace Zhai , Stephan Zuchner

Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Avec: Alessia Mongelli , Stefania Magri , Elena Salvatore , Elena Rizzo , Anna De Rosa , Tommasina Fico , Marta Gatti , Cinzia Gellera , Franco Taroni , Caterina Mariotti , Lorenzo Nanetti

Targeting of immunosuppressive myeloid cells from glioblastoma patients by modulation of size and surface charge of lipid nanocapsules.

Journal of nanobiotechnology

Avec: Laura Pinton , Sara Magri , Elena Masetto , Marina Vettore , Ilaria Schibuola , Vincenzo Ingangi , Ilaria Marigo , Kevin Matha , Jean-Pierre Benoit , Alessandro Della Puppa , Vincenzo Bronte , Giovanna Lollo , Susanna Mandruzzato

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literature.

Epilepsy research

Avec: Jacopo C DiFrancesco , Barbara Castellotti , Raffaella Milanesi , Francesca Ragona , Elena Freri , Laura Canafoglia , Silvana Franceschetti , Carlo Ferrarese , Stefania Magri , Franco Taroni , Cinzia Costa , Angelo Labate , Antonio Gambardella , Roberta Solazzi , Anna Binda , Ilaria Rivolta , Giancarlo Di Gennaro , Sara Casciato , Ludovico D'Incerti , Andrea Barbuti , Dario DiFrancesco , Tiziana Granata , Cinzia Gellera

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Annals of neurology

Avec: Davide Pareyson , Tanya Stojkovic , Mary M Reilly , Sarah Leonard-Louis , Matilde Laurà , Julian Blake , Yesim Parman , Esra Battaloglu , Meriem Tazir , Mounia Bellatache , Nathalie Bonello-Palot , Nicolas Lévy , Sabrina Sacconi , Raquel Guimarães-Costa , Sharham Attarian , Philippe Latour , Guilhem Solé , André Megarbane , Rita Horvath , Giulia Ricci , Byung-Ok Choi , Angelo Schenone , Chiara Gemelli , Alessandro Geroldi , Mario Sabatelli , Marco Luigetti , Lucio Santoro , Fiore Manganelli , Aldo Quattrone , Paola Valentino , Tatsufumi Murakami , Steven S Scherer , Lois Dankwa , Michael E Shy , Chelsea J Bacon , David N Herrmann , Alberto Zambon , Irene Tramacere , Chiara Pisciotta , Stefania Magri , Stefano C Previtali , Alessandra Bolino

Association between the rs2590498 polymorphism of Odorant Binding Protein (OBPIIa) gene and olfactory performance in healthy subjects.

Behavioural brain research

Avec: Giorgia Sollai , Melania Melis , Salvatore Magri , Paolo Usai , Thomas Hummel , Iole Tomassini Barbarossa , Roberto Crnjar

Polymer ultrastructure governs AA9 lytic polysaccharide monooxygenases functionalization and deconstruction efficacy on cellulose nano-crystals.

Bioresource technology

Avec: Silvia Magri , Gulsen Nazerian , Tiriana Segato , Antonielle Vieira Monclaro , Marco Zarattini , Fernando Segato , Igor Polikarpov , David Cannella

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.

Annals of clinical and translational neurology

Avec: Marisa I Mendes , Lydia M C Green , Enrico Bertini , Davide Tonduti , Chiara Aiello , Desiree Smith , Ettore Salsano , Shanice Beerepoot , Jozef Hertecant , Sarah von Spiczak , John H Livingston , Lisa Emrick , Jamie Fraser , Laura Russell , Genevieve Bernard , Stefania Magri , Daniela Di Bella , Franco Taroni , Mary K Koenig , Isabella Moroni , Gerarda Cappuccio , Nicola Brunetti-Pierri , Jullie Rhee , Bryce A Mendelsohn , Ingo Helbig , Katherine Helbig , Hiltrud Muhle , Omar Ismayl , Adeline L Vanderver , Gajja S Salomons , Marjo S van der Knaap , Nicole I Wolf

Olfactory Function in Patients with Inflammatory Bowel Disease (IBD) Is Associated with Their Body Mass Index and Polymorphism in the Odor Binding-Protein (OBPIIa) Gene.

Nutrients

Avec: Giorgia Sollai , Melania Melis , Mariano Mastinu , Danilo Paduano , Fabio Chicco , Salvatore Magri , Paolo Usai , Thomas Hummel , Iole Tomassini Barbarossa , Roberto Crnjar

Developmental trajectories of global motion and global form perception from 4 years to adulthood.

Journal of experimental child psychology

Avec: Mariagrazia Benassi , Sara Giovagnoli , Tony Pansell , Luca Mandolesi , Roberto Bolzani , Sara Magri , Lea Forsman , Kerstin Hellgren

Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout.

American journal of medical genetics. Part A

Avec: Stefania Magri , Lorenzo Nanetti , Alessia Mongelli , Elena Rizzo , Franco Taroni , Caterina Mariotti , Cinzia Gellera

DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.

European journal of neurology

Avec: Paola Saveri , Stefania Magri , Emanuela Maderna , Francesca Balistreri , Raffaella Lombardi , Claudia Ciano , Fabio Moda , Barbara Garavaglia , Chiara Reale , Giuseppe Lauria Pinter , Franco Taroni , Davide Pareyson , Chiara Pisciotta

Myeloid Diagnostic and Prognostic Markers of Immune Suppression in the Blood of Glioma Patients.

Frontiers in immunology

Avec: Paola Del Bianco , Laura Pinton , Sara Magri , Stefania Canè , Elena Masetto , Daniela Basso , Marta Padovan , Francesco Volpin , Domenico d'Avella , Giuseppe Lombardi , Vittorina Zagonel , Vincenzo Bronte , Alessandro Della Puppa , Susanna Mandruzzato

Generation of an iPSC line from a patient with spastic paraplegia type 10 carrying a novel mutation in KIF5A gene.

Stem cell research

Avec: Serena Santangelo , Patrizia Bossolasco , Stefania Magri , Claudia Colombrita , Sabrina Invernizzi , Cinzia Gellera , Lorenzo Nanetti , Daniela Di Bella , Vincenzo Silani , Franco Taroni , Antonia Ratti

Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.

Movement disorders : official journal of the Movement Disorder Society

Avec: Lorenzo Nanetti , Stefania Magri , Mario Fichera , Anna Castaldo , Anna Nigri , Chiara Pinardi , Alessia Mongelli , Lidia Sarro , Davide Pareyson , Marina Grisoli , Cinzia Gellera , Daniela Di Bella , Caterina Mariotti , Franco Taroni

AA16 Oxidoreductases Boost Cellulose-Active AA9 Lytic Polysaccharide Monooxygenases from

ACS catalysis

Avec: Peicheng Sun , Zhiyu Huang , Sanchari Banerjee , Marco A S Kadowaki , Romy J Veersma , Silvia Magri , Roelant Hilgers , Sebastian J Muderspach , Christophe V F P Laurent , Roland Ludwig , David Cannella , Leila Lo Leggio , Willem J H van Berkel , Mirjam A Kabel

Réseau de co-auteurs

Franco Taroni 8 collaborations

Cinzia Gellera 5 collaborations

Davide Pareyson 4 collaborations

Lorenzo Nanetti 4 collaborations

Chiara Pisciotta 3 collaborations

Alessia Mongelli 3 collaborations

Caterina Mariotti 3 collaborations

Sara Magri 3 collaborations

Daniela Di Bella 3 collaborations

Chelsea J Bacon 2 collaborations

Matilde Laurà 2 collaborations

Paola Saveri 2 collaborations

Steven S Scherer 2 collaborations

Tanya Stojkovic 2 collaborations

Fiore Manganelli 2 collaborations

Lucio Santoro 2 collaborations

David N Herrmann 2 collaborations

Mary M Reilly 2 collaborations

Michael E Shy 2 collaborations

Elena Rizzo 2 collaborations

Laura Pinton 2 collaborations

Elena Masetto 2 collaborations

Alessandro Della Puppa 2 collaborations

Vincenzo Bronte 2 collaborations

Susanna Mandruzzato 2 collaborations

Giorgia Sollai 2 collaborations

Melania Melis 2 collaborations

Salvatore Magri 2 collaborations

Paolo Usai 2 collaborations

Thomas Hummel 2 collaborations

Iole Tomassini Barbarossa 2 collaborations

Roberto Crnjar 2 collaborations

Silvia Magri 2 collaborations

David Cannella 2 collaborations

Andrea Cortese 1 collaboration

Yi Zhu 1 collaboration

Adriana P Rebelo 1 collaboration

Sara Negri 1 collaboration

Steve Courel 1 collaboration

Lisa Abreu 1 collaboration

Yunhong Bai 1 collaboration

Dana M Bis-Brewer 1 collaboration

Enrico Bugiardini 1 collaboration

Elena Buglo 1 collaboration

Matt C Danzi 1 collaboration

Shawna M E Feely 1 collaboration

Alkyoni Athanasiou-Fragkouli 1 collaboration

Nourelhoda A Haridy 1 collaboration

None None 1 collaboration

Rosario Isasi 1 collaboration

Alaa Khan 1 collaboration

Menelaos Pipis 1 collaboration

Eric Powell 1 collaboration

Alexander M Rossor 1 collaboration

Janet E Sowden 1 collaboration

Stefano Tozza 1 collaboration

Jana Vandrovcova 1 collaboration

Julia Dallman 1 collaboration

Elena Grignani 1 collaboration

Enrico Marchioni 1 collaboration

Beisha Tang 1 collaboration

Zhiqiang Lin 1 collaboration

Abdullah Al-Ajmi 1 collaboration

Rebecca Schüle 1 collaboration

Matthis Synofzik 1 collaboration

Thierry Maisonobe 1 collaboration

Michaela Auer-Grumbach 1 collaboration

Mohamed A Abdelhamed 1 collaboration

Sherifa A Hamed 1 collaboration

Ruxu Zhang 1 collaboration

Henry Houlden 1 collaboration

R Grace Zhai 1 collaboration

Stephan Zuchner 1 collaboration

Elena Salvatore 1 collaboration

Anna De Rosa 1 collaboration

Tommasina Fico 1 collaboration

Marta Gatti 1 collaboration

Marina Vettore 1 collaboration

Ilaria Schibuola 1 collaboration

Vincenzo Ingangi 1 collaboration

Ilaria Marigo 1 collaboration

Kevin Matha 1 collaboration

Jean-Pierre Benoit 1 collaboration

Giovanna Lollo 1 collaboration

Jacopo C DiFrancesco 1 collaboration

Barbara Castellotti 1 collaboration

Raffaella Milanesi 1 collaboration

Francesca Ragona 1 collaboration

Elena Freri 1 collaboration

Laura Canafoglia 1 collaboration

Silvana Franceschetti 1 collaboration

Carlo Ferrarese 1 collaboration

Cinzia Costa 1 collaboration

Angelo Labate 1 collaboration

Antonio Gambardella 1 collaboration

Roberta Solazzi 1 collaboration

Anna Binda 1 collaboration

Ilaria Rivolta 1 collaboration

Giancarlo Di Gennaro 1 collaboration

Sara Casciato 1 collaboration

Ludovico D'Incerti 1 collaboration

Andrea Barbuti 1 collaboration

Dario DiFrancesco 1 collaboration

Tiziana Granata 1 collaboration

Sarah Leonard-Louis 1 collaboration

Julian Blake 1 collaboration

Yesim Parman 1 collaboration

Esra Battaloglu 1 collaboration

Meriem Tazir 1 collaboration

Mounia Bellatache 1 collaboration

Nathalie Bonello-Palot 1 collaboration

Nicolas Lévy 1 collaboration

Sabrina Sacconi 1 collaboration

Raquel Guimarães-Costa 1 collaboration

Sharham Attarian 1 collaboration

Philippe Latour 1 collaboration

Guilhem Solé 1 collaboration

André Megarbane 1 collaboration

Rita Horvath 1 collaboration

Giulia Ricci 1 collaboration

Byung-Ok Choi 1 collaboration

Angelo Schenone 1 collaboration

Chiara Gemelli 1 collaboration

Alessandro Geroldi 1 collaboration

Mario Sabatelli 1 collaboration

Marco Luigetti 1 collaboration

Aldo Quattrone 1 collaboration

Paola Valentino 1 collaboration

Tatsufumi Murakami 1 collaboration

Lois Dankwa 1 collaboration

Alberto Zambon 1 collaboration

Irene Tramacere 1 collaboration

Stefano C Previtali 1 collaboration

Alessandra Bolino 1 collaboration

Gulsen Nazerian 1 collaboration

Tiriana Segato 1 collaboration

Antonielle Vieira Monclaro 1 collaboration

Marco Zarattini 1 collaboration

Fernando Segato 1 collaboration

Igor Polikarpov 1 collaboration

Marisa I Mendes 1 collaboration

Lydia M C Green 1 collaboration

Enrico Bertini 1 collaboration

Davide Tonduti 1 collaboration

Chiara Aiello 1 collaboration

Desiree Smith 1 collaboration

Ettore Salsano 1 collaboration

Shanice Beerepoot 1 collaboration

Jozef Hertecant 1 collaboration

Sarah von Spiczak 1 collaboration

John H Livingston 1 collaboration

Lisa Emrick 1 collaboration

Jamie Fraser 1 collaboration

Laura Russell 1 collaboration

Genevieve Bernard 1 collaboration

Mary K Koenig 1 collaboration

Isabella Moroni 1 collaboration

Gerarda Cappuccio 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Jullie Rhee 1 collaboration

Bryce A Mendelsohn 1 collaboration

Ingo Helbig 1 collaboration

Katherine Helbig 1 collaboration

Hiltrud Muhle 1 collaboration

Omar Ismayl 1 collaboration

Adeline L Vanderver 1 collaboration

Gajja S Salomons 1 collaboration

Marjo S van der Knaap 1 collaboration

Nicole I Wolf 1 collaboration

Mariano Mastinu 1 collaboration

Danilo Paduano 1 collaboration

Fabio Chicco 1 collaboration

Mariagrazia Benassi 1 collaboration

Sara Giovagnoli 1 collaboration

Tony Pansell 1 collaboration

Luca Mandolesi 1 collaboration

Roberto Bolzani 1 collaboration

Lea Forsman 1 collaboration

Kerstin Hellgren 1 collaboration

Emanuela Maderna 1 collaboration

Francesca Balistreri 1 collaboration

Raffaella Lombardi 1 collaboration

Claudia Ciano 1 collaboration

Fabio Moda 1 collaboration

Barbara Garavaglia 1 collaboration

Chiara Reale 1 collaboration

Giuseppe Lauria Pinter 1 collaboration

Paola Del Bianco 1 collaboration

Stefania Canè 1 collaboration

Daniela Basso 1 collaboration

Marta Padovan 1 collaboration

Francesco Volpin 1 collaboration

Domenico d'Avella 1 collaboration

Giuseppe Lombardi 1 collaboration

Vittorina Zagonel 1 collaboration

Serena Santangelo 1 collaboration

Patrizia Bossolasco 1 collaboration

Claudia Colombrita 1 collaboration

Sabrina Invernizzi 1 collaboration

Vincenzo Silani 1 collaboration

Antonia Ratti 1 collaboration

Mario Fichera 1 collaboration

Anna Castaldo 1 collaboration

Anna Nigri 1 collaboration

Chiara Pinardi 1 collaboration

Lidia Sarro 1 collaboration

Marina Grisoli 1 collaboration

Peicheng Sun 1 collaboration

Zhiyu Huang 1 collaboration

Sanchari Banerjee 1 collaboration

Marco A S Kadowaki 1 collaboration

Romy J Veersma 1 collaboration

Roelant Hilgers 1 collaboration

Sebastian J Muderspach 1 collaboration

Christophe V F P Laurent 1 collaboration

Roland Ludwig 1 collaboration

Leila Lo Leggio 1 collaboration

Willem J H van Berkel 1 collaboration

Mirjam A Kabel 1 collaboration