D Pareyson

Affiliations

Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Publications (81)

hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers.

Brain sciences

Avec: Marco Luigetti , Marina Romozzi , Giulia Bisogni , Davide Cardellini , Tiziana Cavallaro , Andrea Di Paolantonio , Gian Maria Fabrizi , Silvia Fenu , Luca Gentile , Marina Grandis , Gianluca Marucci , Sara Massucco , Anna Mazzeo , Davide Pareyson , Angela Romano , Massimo Russo , Angelo Schenone , Matteo Tagliapietra , Stefano Tozza , Giuseppe Vita , Mario Sabatelli

Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.

Journal of neurology

Avec: Ilaria Callegari , C Gemelli , A Geroldi , F Veneri , P Mandich , M D'Antonio , D Pareyson , M E Shy , A Schenone , V Prada , M Grandis

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

Journal of neuromuscular diseases

Avec: Feifei Tao , Gary W Beecham , Adriana P Rebelo , Susan H Blanton , John J Moran , Camila Lopez-Anido , John Svaren , Lisa Abreu , Devon Rizzo , Callyn A Kirk , Xingyao Wu , Shawna Feely , Camiel Verhamme , Mario A Saporta , David N Herrmann , John W Day , Charlotte J Sumner , Thomas E Lloyd , Jun Li , Sabrina W Yum , Franco Taroni , Frank Baas , Byung-Ok Choi , Davide Pareyson , Steven S Scherer , Mary M Reilly , Michael E Shy , Stephan Züchner , Auteur inconnu

Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.

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

Avec: Chiara Benzoni , Domenico Aquino , Daniela Di Bella , Elisa Sarto , Marco Moscatelli , Davide Pareyson , Franco Taroni , Ettore Salsano

Discovering the Italian phenotype of cerebral amyloid angiopathy (CAA): the SENECA project.

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

Avec: Anna Bersano , Emma Scelzo , Leonardo Pantoni , Andrea Morotti , Alessandra Erbetta , Luisa Chiapparini , Paolo Vitali , Giorgio Giaccone , Paola Caroppo , Marcella Catania , Laura Obici , Giuseppe Di Fede , Laura Gatti , Francesca Tinelli , Jacopo C Di Francesco , Fabrizio Piazza , Carlo Ferrarese , Massimo Gasparini , Laura Adobbati , Stefania Bianchi-Marzoli , Gemma Tremolada , Simona Sacco , Michelangelo Mancuso , Maria Luisa Zedde , Massimiliano Godani , Silvia Lanfranconi , Davide Pareyson , Marco Di Girolamo , Cristina Motto , Andreas Charidimou , Gregoire Boulouis , Eugenio A Parati , Auteur inconnu

Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature.

Frontiers in neurology

Avec: Sara Massucco , Cristina Schenone , Elena Faedo , Chiara Gemelli , Emilia Bellone , Lucio Marinelli , Davide Pareyson , Chiara Pisciotta , Tiziana Mongini , Angelo Schenone , Marina Grandis

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.

Brain : a journal of neurology

Avec: Gage Kosmanopoulos , Jack K Donohue , Maya Hoke , Simone Thomas , Margo A Peyton , Linh Vo , Thomas O Crawford , Reza Sadjadi , David N Herrmann , Sabrina W Yum , Mary M Reilly , Steven S Scherer , Richard S Finkel , Richard A Lewis , Davide Pareyson , Chiara Pisciotta , David Walk , Michael E Shy , Charlotte J Sumner , Auteur inconnu , Brett A McCray

Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study.

Annals of neurology

Avec: Vera Fridman , Stefan Sillau , Jacob Bockhorst , Kaitlin Smith , Isabella Moroni , Emanuela Pagliano , Chiara Pisciotta , Guiseppe Piscosquito , Matilde Laurá , Francesco Muntoni , Chelsea Bacon , Shawna Feely , Tiffany Grider , Laurie Gutmann , Rosemary Shy , Janel Wilcox , David N Herrmann , Jun Li , Sindhu Ramchandren , Charlotte J Sumner , Thomas E Lloyd , John Day , Carly E Siskind , Sabrina W Yum , Reza Sadjadi , Richard S Finkel , Steven S Scherer , Davide Pareyson , Mary M Reilly , Michael E Shy , Auteur inconnu

Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry.

Journal of neurology

Avec: Marta Bellofatto , Alessandro Bertini , Irene Tramacere , Fiore Manganelli , Gian Maria Fabrizi , Angelo Schenone , Lucio Santoro , Tiziana Cavallaro , Marina Grandis , Stefano C Previtali , Isabella Allegri , Luca Padua , Costanza Pazzaglia , Daniela Calabrese , Paola Saveri , Aldo Quattrone , Paola Valentino , Stefano Tozza , Luca Gentile , Massimo Russo , Anna Mazzeo , Giuseppe Vita , Sylvie Piacentini , Chiara Pisciotta , Davide Pareyson , Auteur inconnu

Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.

Annals of neurology

Avec: Mary M Reilly , David N Herrmann , Davide Pareyson , Steven S Scherer , Richard S Finkel , Stephan Züchner , Joshua Burns , Michael E Shy

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Brain : a journal of neurology

Avec: Christopher J Record , Mariola Skorupinska , Matilde Laura , Alexander M Rossor , Davide Pareyson , Chiara Pisciotta , Shawna M E Feely , Thomas E Lloyd , Rita Horvath , Reza Sadjadi , David N Herrmann , Jun Li , David Walk , Sabrina W Yum , Richard A Lewis , John Day , Joshua Burns , Richard S Finkel , Mario A Saporta , Sindhu Ramchandren , Michael D Weiss , Gyula Acsadi , Vera Fridman , Francesco Muntoni , Roy Poh , James M Polke , Stephan Zuchner , Michael E Shy , Steven S Scherer , Mary M Reilly , Auteur inconnu

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

Brain : a journal of neurology

Avec: Natalia Dominik , Stefania Magri , Riccardo Currò , Elena Abati , Stefano Facchini , Marinella Corbetta , Hannah Macpherson , Daniela Di Bella , Elisa Sarto , Igor Stevanovski , Sanjog R Chintalaphani , Fulya Akcimen , Arianna Manini , Elisa Vegezzi , Ilaria Quartesan , Kylie-Ann Montgomery , Valentina Pirota , Emmanuele Crespan , Cecilia Perini , Glenda Paola Grupelli , Pedro J Tomaselli , Wilson Marques , Auteur inconnu , Joseph Shaw , James Polke , Ettore Salsano , Silvia Fenu , Davide Pareyson , Chiara Pisciotta , George K Tofaris , Andrea H Nemeth , John Ealing , Aleksandar Radunovic , Seamus Kearney , Kishore R Kumar , Steve Vucic , Marina Kennerson , Mary M Reilly , Henry Houlden , Ira Deveson , Arianna Tucci , Franco Taroni , Andrea Cortese

Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.

Annals of clinical and translational neurology

Avec: Kayla M D Cornett , Manoj P Menezes , Paula Bray , Rosemary R Shy , Isabella Moroni , Emanuela Pagliano , Davide Pareyson , Tim Estilow , Sabrina W Yum , Trupti Bhandari , Francesco Muntoni , Matilde Laura , Mary M Reilly , Richard S Finkel , Katy J Eichinger , David N Herrmann , Michael E Shy , Joshua Burns , Auteur inconnu

Validation of the Italian version of the Charcot-Marie-Tooth Health Index.

Journal of the peripheral nervous system : JPNS

Avec: Chiara Pisciotta , Emma Ciafaloni , Riccardo Zuccarino , Daniela Calabrese , Paola Saveri , Silvia Fenu , Irene Tramacere , Filippo Genovese , Nuran Dilek , Nicholas E Johnson , Chad Heatwole , David N Herrmann , Davide Pareyson , Auteur inconnu

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel

Cells

Avec: Paola Saveri , Maria De Luca , Veronica Nisi , Chiara Pisciotta , Roberta Romano , Giuseppe Piscosquito , Mary M Reilly , James M Polke , Tiziana Cavallaro , Gian Maria Fabrizi , Paola Fossa , Elena Cichero , Raffaella Lombardi , Giuseppe Lauria , Stefania Magri , Franco Taroni , Davide Pareyson , Cecilia Bucci

Biopsy-proven primary angiitis of the central nervous system mimicking leukodystrophy: A case report and review of the literature.

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

Avec: Luigi Caputi , Alessandra Erbetta , Gianluca Marucci , Davide Pareyson , Marica Eoli , Maura Servida , Eugenio Parati , Ettore Salsano

Outcome measures in the clinical evaluation of ambulatory Charcot-Marie-Tooth 1A subjects.

European journal of physical and rehabilitation medicine

Avec: Laura Mori , Valeria Prada , Alessio Signori , Davide Pareyson , Giuseppe Piscosquito , Luca Padua , Costanza Pazzaglia , Gian Maria Fabrizi , Nicola Smania , Alessandro Picelli , Angelo Schenone , Auteur inconnu

Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Annals of clinical and translational neurology

Avec: Elena Abati , Stefania Magri , Megi Meneri , Giulia Manenti , Daniele Velardo , Francesca Balistreri , Chiara Pisciotta , Paola Saveri , Nereo Bresolin , Giacomo Pietro Comi , Dario Ronchi , Davide Pareyson , Franco Taroni , Stefania Corti

Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy.

Orphanet journal of rare diseases

Avec: Lorenza Magliano , Laura Obici , Claudia Sforzini , Anna Mazzeo , Massimo Russo , Francesco Cappelli , Silvia Fenu , Marco Luigetti , Matteo Tagliapietra , Chiara Gemelli , Luca Leonardi , Stefano Tozza , Luca Guglielmo Pradotto , Giulia Citarelli , Alessandro Mauro , Fiore Manganelli , Giovanni Antonini , Marina Grandis , Gian Maria Fabrizi , Mario Sabatelli , Davide Pareyson , Federico Perfetto , Giampaolo Merlini , Giuseppe Vita , Auteur inconnu

Recommendations for pre-symptomatic genetic testing for hereditary transthyretin amyloidosis in the era of effective therapy: a multicenter Italian consensus.

Orphanet journal of rare diseases

Avec: M Grandis , L Obici , M Luigetti , C Briani , F Benedicenti , G Bisogni , M Canepa , F Cappelli , C Danesino , G M Fabrizi , S Fenu , G Ferrandes , C Gemelli , F Manganelli , A Mazzeo , L Melchiorri , F Perfetto , L G Pradotto , P Rimessi , G Tini , S Tozza , L Trevisan , D Pareyson , P Mandich

Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.

Neurogenetics

Avec: Chiara Cavestro , Celeste Panteghini , Chiara Reale , Alessia Nasca , Silvia Fenu , Ettore Salsano , Luisa Chiapparini , Barbara Garavaglia , Davide Pareyson , Ivano Di Meo , Valeria Tiranti

Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives.

Brain sciences

Avec: Chiara Pisciotta , Paola Saveri , Davide Pareyson

Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease.

Neurology

Avec: Gabrielle A Donlevy , Sarah P Garnett , Kayla M D Cornett , Marnee J McKay , Jennifer N Baldwin , Rosemary R Shy , Sabrina W Yum , Timothy Estilow , Isabella Moroni , Maria Foscan , Emanuela Pagliano , Davide Pareyson , Matilde Laura , Trupti Bhandari , Francesco Muntoni , Mary M Reilly , Richard S Finkel , Janet E Sowden , Katy J Eichinger , David N Herrmann , Michael E Shy , Joshua Burns , Manoj P Menezes

Validation of the Italian version of the pediatric CMT quality of life outcome measure.

Journal of the peripheral nervous system : JPNS

Avec: Isabella Moroni , Federica Rachele Danti , Davide Pareyson , Emanuela Pagliano , Giuseppe Piscosquito , Maria Foscan , Alessia Marchi , Anna Ardissone , Silvia Genitrini , Tong Tong Wu , Michael E Shy , Sindhu Ramchandren

Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry.

European journal of neurology

Avec: Chiara Pisciotta , Alessandro Bertini , Irene Tramacere , Fiore Manganelli , Gian Maria Fabrizi , Angelo Schenone , Stefano Tozza , Tiziana Cavallaro , Federica Taioli , Moreno Ferrarini , Marina Grandis , Emilia Bellone , Paola Mandich , Stefano C Previtali , Yuri Falzone , Isabella Allegri , Luca Padua , Costanza Pazzaglia , Aldo Quattrone , Paola Valentino , Luca Gentile , Massimo Russo , Daniela Calabrese , Isabella Moroni , Emanuela Pagliano , Paola Saveri , Stefania Magri , Silvia Baratta , Franco Taroni , Anna Mazzeo , Lucio Santoro , Giuseppe Vita , Davide Pareyson , Auteur inconnu

Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.

Orphanet journal of rare diseases

Avec: Fernanda Fortunato , Francesca Bianchi , Giulia Ricci , Francesca Torri , Francesca Gualandi , Marcella Neri , Marianna Farnè , Fabio Giannini , Alessandro Malandrini , Nila Volpi , Diego Lopergolo , Vincenzo Silani , Nicola Ticozzi , Federico Verde , Davide Pareyson , Silvia Fenu , Silvia Bonanno , Vincenzo Nigro , Cristina Peduto , Paola D'Ambrosio , Roberta Zeuli , Mariateresa Zanobio , Esther Picillo , Serenella Servidei , Guido Primiano , Cristina Sancricca , Monica Sciacco , Roberta Brusa , Massimiliano Filosto , Stefano Cotti Piccinelli , Elena Pegoraro , Tiziana Mongini , Luca Solero , Giulio Gadaleta , Chiara Brusa , Carlo Minetti , Claudio Bruno , Chiara Panicucci , Valeria A Sansone , Christian Lunetta , Alice Zanolini , Antonio Toscano , Alessia Pugliese , Giulia Nicocia , Enrico Bertini , Michela Catteruccia , Daria Diodato , Antonio Atalaia , Teresinha Evangelista , Gabriele Siciliano , Alessandra Ferlini

Parent-proxy pediatric CMT quality of life outcome measure: Validation of the Italian version.

Journal of the peripheral nervous system : JPNS

Avec: Federica Rachele Danti , Emanuela Pagliano , Davide Pareyson , Maria Foscan , Alessia Marchi , Alessia Feoli , Fabio Bruschi , Giuseppe Piscosquito , Micheal E Shy , Sindhu Ramchandren , Isabella Moroni , Tong Tong Wu

Dysregulation of FLVCR1a-dependent mitochondrial calcium handling in neural progenitors causes congenital hydrocephalus.

Cell reports. Medicine

Avec: Francesca Bertino , Dibyanti Mukherjee , Massimo Bonora , Christoph Bagowski , Jeannette Nardelli , Livia Metani , Diletta Isabella Zanin Venturini , Diego Chianese , Nicolas Santander , Iris Chiara Salaroglio , Andreas Hentschel , Elisa Quarta , Tullio Genova , Arpana Arjun McKinney , Anna Lucia Allocco , Veronica Fiorito , Sara Petrillo , Giorgia Ammirata , Francesco De Giorgio , Evan Dennis , Garrett Allington , Felicitas Maier , Moneef Shoukier , Karl-Philipp Gloning , Luca Munaron , Federico Mussano , Ettore Salsano , Davide Pareyson , Maja di Rocco , Fiorella Altruda , Georgia Panagiotakos , Kristopher T Kahle , Pierre Gressens , Chiara Riganti , Paolo P Pinton , Andreas Roos , Thomas Arnold , Emanuela Tolosano , Deborah Chiabrando

Treadmill training in patients affected by Charcot-Marie-Tooth neuropathy: results of a multicenter, prospective, randomized, single-blind, controlled study.

European journal of neurology

Avec: L Mori , A Signori , V Prada , D Pareyson , G Piscosquito , L Padua , C Pazzaglia , G M Fabrizi , A Picelli , A Schenone , Auteur inconnu

Leukoencephalopathy With Predominant Infratentorial Involvement Caused by a Novel ABCD1 Mutation: Does the Spinocerebellar Variant of Adrenoleukodystrophy Exist?

The neurologist

Avec: Chiara Benzoni , Laura Farina , Viviana Pensato , Giorgio Marotta , Altin Kuqo , Elena Mauro , Davide Pareyson , Ettore Salsano

Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.

Annals of neurology

Avec: Feifei Tao , Gary W Beecham , Adriana P Rebelo , John Svaren , Susan H Blanton , John J Moran , Camila Lopez-Anido , Jasper M Morrow , Lisa Abreu , Devon Rizzo , Callyn A Kirk , Xingyao Wu , Shawna Feely , Camiel Verhamme , Mario A Saporta , David N Herrmann , John W Day , Charlotte J Sumner , Thomas E Lloyd , Jun Li , Sabrina W Yum , Franco Taroni , Frank Baas , Byung-Ok Choi , Davide Pareyson , Steven S Scherer , Mary M Reilly , Michael E Shy , Stephan Züchner , Auteur inconnu

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

Annals of neurology

Avec: Leonardo Caporali , Stefania Magri , Andrea Legati , Valentina Del Dotto , Francesca Tagliavini , Francesca Balistreri , Alessia Nasca , Chiara La Morgia , Michele Carbonelli , Maria L Valentino , Eleonora Lamantea , Silvia Baratta , Ludger Schöls , Rebecca Schüle , Piero Barboni , Maria L Cascavilla , Alessandra Maresca , Mariantonietta Capristo , Anna Ardissone , Davide Pareyson , Gabriella Cammarata , Lisa Melzi , Massimo Zeviani , Lorenzo Peverelli , Costanza Lamperti , Stefania B Marzoli , Mingyan Fang , Matthis Synofzik , Daniele Ghezzi , Valerio Carelli , Franco Taroni

ATTRv amyloidosis Italian Registry: clinical and epidemiological data.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Avec: Massimo Russo , Laura Obici , Ilaria Bartolomei , Francesco Cappelli , Marco Luigetti , Silvia Fenu , Tiziana Cavallaro , Maria Grazia Chiappini , Chiara Gemelli , Luca Guglielmo Pradotto , Fiore Manganelli , Luca Leonardi , Filomena My , Simone Sampaolo , Chiara Briani , Luca Gentile , Claudia Stancanelli , Eleonora Di Buduo , Paolo Pacciolla , Fabrizio Salvi , Silvia Casagrande , Giulia Bisogni , Daniela Calabrese , Fiammetta Vanoli , Giuseppe Di Iorio , Giovanni Antonini , Lucio Santoro , Alessandro Mauro , Marina Grandis , Marco Di Girolamo , Gian Maria Fabrizi , Davide Pareyson , Mario Sabatelli , Federico Perfetto , Claudio Rapezzi , Giampaolo Merlini , Anna Mazzeo , Giuseppe Vita

Author Correction: 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

Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.

Proceedings of the National Academy of Sciences of the United States of America

Avec: Marta Guerrero-Valero , Federica Grandi , Silvia Cipriani , Valeria Alberizzi , Roberta Di Guardo , Gaetan Chicanne , Linda Sawade , Francesca Bianchi , Ubaldo Del Carro , Ivan De Curtis , Davide Pareyson , Yesim Parman , Angelo Schenone , Volker Haucke , Bernard Payrastre , Alessandra Bolino

Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy.

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

Avec: Davide Pareyson , Chiara Pantaleoni , Roberto Eleopra , Giuseppe De Filippis , Isabella Moroni , Elena Freri , Federica Zibordi , Sara Bulgheroni , Emanuela Pagliano , Daniela Sarti , Antonio Silvani , Licia Grazzi , Pietro Tiraboschi , Giuseppe Didato , Elena Anghileri , Anna Bersano , Laura Valentini , Sylvie Piacentini , Cristina Muscio , Matilde Leonardi , Caterina Mariotti , Marica Eoli , Sara Nuzzo , Fabrizio Tagliavini , Paolo Confalonieri , Francesca De Giorgi , Auteur inconnu

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.

Orphanet journal of rare diseases

Avec: Antonio Atalaia , Dagmar Wandrei , Nawel Lalout , Rachel Thompson , Adrian Tassoni , Peter A C 't Hoen , Dimitrios Athanasiou , Suzie-Ann Baker , Paraskevi Sakellariou , Georgios Paliouras , Carla D'Angelo , Rita Horvath , Michelangelo Mancuso , Nadine van der Beek , Cornelia Kornblum , Janbernd Kirschner , Davide Pareyson , Guillaume Bassez , Laura Blacas , Maxime Jacoupy , Catherine Eng , François Lamy , Jean-Philippe Plançon , Jana Haberlova , Esther Brusse , Janneke G J Hoeijmakers , Marianne de Visser , Kristl G Claeys , Carmen Paradas , Antonio Toscano , Vincenzo Silani , Melinda Gyenge , Evy Reviers , Dalil Hamroun , Elisabeth Vroom , Mark D Wilkinson , Hanns Lochmuller , Teresinha Evangelista

European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.

European journal of neurology

Avec: Katina Aleksovska , Teia Kobulashvili , Joao Costa , Georg Zimmermann , Karen Ritchie , Carola Reinhard , Luca Vignatelli , Alessandra Fanciulli , Maxwel Damian , Lucia Pavlakova , Jean-Marc Burgunder , Svetlana Kopishinskaya , Martin Rakusa , Norbert Kovacs , Fusun Ferda Erdogan , Lori Renna Linton , Massimiliano Copetti , Costanza Lamperti , Serenella Servidei , Theresina Evangelista , Segolene Ayme , Davide Pareyson , Johann Sellner , Christian Krarup , Marianne de Visser , Peter van den Bergh , Antonio Toscano , Holm Graessner , Thomas Berger , Claudio Bassetti , Marie Vidailhet , Eugene Trinka , Guenther Deuschl , Antonio Federico , Maurizio A Leone

Reliable virtual clinical assessment in spino-bulbar muscular atrophy (SBMA).

Journal of neurology, neurosurgery, and psychiatry

Avec: Silvia Fenu , Irene Tramacere , Francesca De Giorgi , Davide Pareyson

Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.

European journal of neurology

Avec: Silvia Cipriani , Marta Guerrero-Valero , Stefano Tozza , Edward Zhao , Veith Vollmer , Danique Beijer , Matt Danzi , Cristina Rivellini , Dejan Lazarevic , Giovanni Battista Pipitone , Bianca Rose Grosz , Costanza Lamperti , Stefania Bianchi Marzoli , Paola Carrera , Marcella Devoto , Chiara Pisciotta , Davide Pareyson , Marina Kennerson , Stefano C Previtali , Stephan Zuchner , Steven S Scherer , Fiore Manganelli , Martin Bähler , Alessandra Bolino

Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.

Brain : a journal of neurology

Avec: Tyler Rehbein , Tong Tong Wu , Simona Treidler , Davide Pareyson , Richard Lewis , Sabrina W Yum , Brett A McCray , Sindhu Ramchandren , Joshua Burns , Jun Li , Richard S Finkel , Steven S Scherer , Stephan Zuchner , Michael E Shy , Mary M Reilly , David N Herrmann

Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease.

Neuromuscular disorders : NMD

Avec: Chiara Pisciotta , Davide Pareyson

Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy.

Journal of neurology, neurosurgery, and psychiatry

Avec: Alessandro Bertini , Luca Gentile , Tiziana Cavallaro , Stefano Tozza , Paola Saveri , Massimo Russo , Sara Massucco , Yuri Matteo Falzone , Emilia Bellone , Federica Taioli , Alessandro Geroldi , Giuseppe Occhipinti , Moreno Ferrarini , Eleonora Cavalca , Luca Crivellari , Paola Mandich , Francesca Balistreri , Stefania Magri , Franco Taroni , Stefano Carlo Previtali , Angelo Schenone , Marina Grandis , Fiore Manganelli , Gian Maria Fabrizi , Anna Mazzeo , Davide Pareyson , Chiara Pisciotta

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.

Cell death & disease

Avec: Marta Cozzi , Stefania Magri , Barbara Tedesco , Guglielmo Patelli , Veronica Ferrari , Elena Casarotto , Marta Chierichetti , Paola Pramaggiore , Laura Cornaggia , Margherita Piccolella , Mariarita Galbiati , Paola Rusmini , Valeria Crippa , Jessica Mandrioli , Davide Pareyson , Chiara Pisciotta , Stefano D'Arrigo , Antonia Ratti , Lorenzo Nanetti , Caterina Mariotti , Elisa Sarto , Viviana Pensato , Cinzia Gellera , Daniela Di Bella , Riccardo M Cristofani , Franco Taroni , Angelo Poletti

Validation of the Italian version of the Charcot-Marie-Tooth disease Pediatric Scale.

Journal of the peripheral nervous system : JPNS

Avec: Riccardo Zuccarino , Valeria Prada , Isabella Moroni , Emanuela Pagliano , Maria Foscan , Giulia Robbiano , Chiara Pisciotta , Kayla Cornett , Rosemary Shy , Angelo Schenone , Davide Pareyson , Michael Shy , Joshua Burns

Expanding the spectrum of genes responsible for hereditary motor neuropathies.

Journal of neurology, neurosurgery, and psychiatry

Avec: Stefano C Previtali , Edward Zhao , Dejan Lazarevic , Giovanni Battista Pipitone , Gian Maria Fabrizi , Fiore Manganelli , Anna Mazzeo , Davide Pareyson , Angelo Schenone , Franco Taroni , Giuseppe Vita , Emilia Bellone , Moreno Ferrarini , Matteo Garibaldi , Stefania Magri , Luca Padua , Elena Pennisi , Chiara Pisciotta , Nilo Riva , Vidmer Scaioli , Marina Scarlato , Stefano Tozza , Alessandro Geroldi , Albena Jordanova , Maurizio Ferrari , Ivan Molineris , Mary M Reilly , Giancarlo Comi , Paola Carrera , Marcella Devoto , Alessandra Bolino

Neurology. Genetics

Avec: Viorica Chelban , Miryam Carecchio , Gillian Rea , Abdalla Bowirrat , Salman Kirmani , Luca Magistrelli , Stephanie Efthymiou , Lucia Schottlaender , Jana Vandrovcova , Vincenzo Salpietro , Ettore Salsano , Davide Pareyson , Luisa Chiapparini , Farida Jan , Shahnaz Ibrahim , Fatima Khan , Zul Qarnain , Stanislav Groppa , Nin Bajaj , Bettina Balint , Kailash P Bhatia , Andrew Lees , Patrick J Morrison , Nicholas W Wood , Barbara Garavaglia , Henry Houlden

Reliability of the Charcot-Marie-Tooth functional outcome measure.

Journal of the peripheral nervous system : JPNS

Avec: Paula Bray , Kayla M D Cornett , Timothy Estilow , Davide Pareyson , Riccardo Zuccarino , Mariola Skorupinska , Menelaos Pipis , Janet E Sowden , Steven Scherer , Mary M Reilly , Michael E Shy , David N Herrmann , Joshua Burns , Katy J Eichinger

Hereditary neuropathy with liability to pressure palsies.

Journal of neurology

Avec: Shahram Attarian , Farzad Fatehi , Yusuf A Rajabally , Davide Pareyson

Are novel outcome measures for Charcot-Marie-Tooth disease sensitive to change? The 6-minute walk test and StepWatch™ Activity Monitor in a 12-month longitudinal study.

Neuromuscular disorders : NMD

Avec: Costanza Pazzaglia , Luca Padua , Davide Pareyson , Angelo Schenone , Alessia Aiello , Gian Maria Fabrizi , Tiziana Cavallaro , Lucio Santoro , Fiore Manganelli , Daniele Coraci , Franco Gemignani , Francesca Vitetta , Aldo Quattrone , Anna Mazzeo , Massimo Russo , Giuseppe Vita , Auteur inconnu

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.

Brain : a journal of neurology

Avec: Menelaos Pipis , Shawna M E Feely , James M Polke , Mariola Skorupinska , Laura Perez , Rosemary R Shy , Matilde Laura , Jasper M Morrow , Isabella Moroni , Chiara Pisciotta , Franco Taroni , Dragan Vujovic , Thomas E Lloyd , Gyula Acsadi , Sabrina W Yum , Richard A Lewis , Richard S Finkel , David N Herrmann , John W Day , Jun Li , Mario Saporta , Reza Sadjadi , David Walk , Joshua Burns , Francesco Muntoni , Sindhu Ramchandren , Rita Horvath , Nicholas E Johnson , Stephan Züchner , Davide Pareyson , Steven S Scherer , Alexander M Rossor , Michael E Shy , Mary M Reilly , Auteur inconnu

Hereditary transthyretin amyloidosis overview.

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

Avec: Fiore Manganelli , Gian Maria Fabrizi , Marco Luigetti , Paola Mandich , Anna Mazzeo , Davide Pareyson

Hypomyelinating leukodystrophies in adults: Clinical and genetic features.

European journal of neurology

Avec: Daniela Di Bella , Stefania Magri , Chiara Benzoni , Laura Farina , Carmelo Maccagnano , Elisa Sarto , Marco Moscatelli , Silvia Baratta , Claudia Ciano , Sylvie H M J Piacentini , Lara Draghi , Elena Mauro , Davide Pareyson , Cinzia Gellera , Franco Taroni , Ettore Salsano

Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis.

Journal of neurology

Avec: Alessandro Salvalaggio , Daniele Coraci , Laura Obici , Mario Cacciavillani , Marco Luigetti , Anna Mazzeo , Francesca Pastorelli , Marina Grandis , Tiziana Cavallaro , Giulia Bisogni , Alessandro Lozza , Chiara Gemelli , Luca Gentile , Massimo Russo , Mario Ermani , Gian Maria Fabrizi , Rosaria Plasmati , Federica De Napoli , Marta Campagnolo , Francesca Castellani , Fabrizio Salvi , Silvia Fenu , Grazia Devigili , Davide Pareyson , Roberto Gasparotti , Claudio Rapezzi , Carlo Martinoli , Luca Padua , Chiara Briani

Autophagy and Lysosomal Functionality in CMT2B Fibroblasts Carrying the RAB7

Cells

Avec: Roberta Romano , Victoria Stefania Del Fiore , Paola Saveri , Ilaria Elena Palamà , Chiara Pisciotta , Davide Pareyson , Cecilia Bucci , Flora Guerra

Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease.

Journal of neurology, neurosurgery, and psychiatry

Avec: Alessandro Bertini , Fiore Manganelli , Gian Maria Fabrizi , Angelo Schenone , Lucio Santoro , Tiziana Cavallaro , Matteo Tagliapietra , Marina Grandis , Stefano Carlo Previtali , Yuri Matteo Falzone , Isabella Allegri , Luca Padua , Costanza Pazzaglia , Irene Tramacere , Eleonora Cavalca , Paola Saveri , Andrea Quattrone , Paola Valentino , Stefano Tozza , Luca Gentile , Massimo Russo , Anna Mazzeo , Giuseppe Vita , Valeria Prada , Riccardo Zuccarino , Francesco Ferraro , Chiara Pisciotta , Davide Pareyson , Auteur inconnu

Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.

Journal of neuromuscular diseases

Avec: Lynda El-Hassar , Ahmed Amara , Benoit Sanson , Oana Lacatus , Ahmed Amir Belhouchet , Madelon Kroneman , Kristl Claeys , Jean Philippe Plançon , Carmelo Rodolico , Guido Primiano , Francesca Trojsi , Massimiliano Filosto , Tiziana Enrica Mongini , Sara Bortolani , Mauro Monforte , Elena Carraro , Lorenzo Maggi , Federica Ricci , Vincenzo Silani , Daniele Orsucci , Alain Créange , Yann Péréon , Tanya Stojkovic , Nadine Anna Maria Elisabeth van der Beek , Antonio Toscano , Davide Pareyson , Shahram Attarian , Peter Y K Van den Bergh , Gauthier Remiche , Janneke G J Hoeijmakers , Umesh Badrising , Nicol C Voermans , Angela M Kaindl , Ulrike Schara-Schmidt , Benedikt Schoser , Elisabetta Gazzerro , Jana Haberlová , Stanislav Voháňka , Endre Pál , Maria Judit Molnar , Lea Leonardis , Ivailo L Tournev , Andrés Nascimento Osorio , Montse Olivé , Nuria Muelas , Jorge Alonso-Perez , Francesc Plá , Marianne de Visser , Gabriele Siciliano , Sabrina Sacconi

Frequency, entity and determinants of fatigue in Charcot-Marie-Tooth disease.

European journal of neurology

Avec: Marta Bellofatto , Alessandro Bertini , Irene Tramacere , Fiore Manganelli , Gian Maria Fabrizi , Angelo Schenone , Lucio Santoro , Tiziana Cavallaro , Marina Grandis , Stefano C Previtali , Yuri Falzone , Isabella Allegri , Luca Padua , Costanza Pazzaglia , Daniela Calabrese , Paola Saveri , Aldo Quattrone , Paola Valentino , Stefano Tozza , Luca Gentile , Massimo Russo , Anna Mazzeo , Giuseppe Vita , Sylvie Piacentini , Chiara Pisciotta , Davide Pareyson , Auteur inconnu

Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease.

Neurology

Avec: Gabrielle A Donlevy , Kayla M D Cornett , Sarah P Garnett , Rosemary Shy , Timothy Estilow , Sabrina W Yum , Kimberly Anderson , Davide Pareyson , Isabella Moroni , Francesco Muntoni , Mary M Reilly , Richard S Finkel , David N Herrmann , Katy J Eichinger , Michael E Shy , Joshua Burns , Manoj P Menezes

Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients.

Journal of neurology

Avec: Chiara Benzoni , Marco Moscatelli , Laura Farina , Stefania Magri , Claudia Ciano , Vidmer Scaioli , Sara Alverà , Gabriella Cammarata , Stefania Bianchi-Marzoli , Massimo Castellani , Felicia Margherita Zito , Giorgio Marotta , Sylvie Piacentini , Alberto Villacara , Renato Mantegazza , Cinzia Gellera , João Durães , Ana Gouveia , Anabela Matos , Maria do Carmo Macário , Davide Pareyson , Franco Taroni , Daniela Di Bella , Ettore Salsano

Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy.

Journal of neurology

Avec: Roberto Gasparotti , Alessandro Salvalaggio , Daniele Corbo , Giorgio Agazzi , Mario Cacciavillani , Alessandro Lozza , Silvia Fenu , Grazia De Vigili , Matteo Tagliapietra , Gian Maria Fabrizi , Davide Pareyson , Laura Obici , Chiara Briani

Daytime sleepiness and sleep quality in Charcot-Marie-Tooth disease.

Journal of neurology

Avec: Marta Bellofatto , Luca Gentile , Alessandro Bertini , Irene Tramacere , Fiore Manganelli , Gian Maria Fabrizi , Angelo Schenone , Lucio Santoro , Tiziana Cavallaro , Marina Grandis , Stefano C Previtali , Marina Scarlato , Isabella Allegri , Luca Padua , Costanza Pazzaglia , Flavio Villani , Eleonora Cavalca , Paola Saveri , Aldo Quattrone , Paola Valentino , Stefano Tozza , Massimo Russo , Anna Mazzeo , Giuseppe Vita , Sylvie Piacentini , Giuseppe Didato , Chiara Pisciotta , Davide Pareyson , Auteur inconnu

Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.

Journal of the peripheral nervous system : JPNS

Avec: T Rehbein , J Purks , N Dilek , S Behrens-Spraggins , J E Sowden , K J Eichinger , Auteur inconnu , J Burns , D Pareyson , S S Scherer , M M Reilly , M E Shy , M P McDermott , C R Heatwole , D N Herrmann

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

Nature genetics

Avec: Vera Fridman , Stefan Sillau , Gyula Acsadi , Chelsea Bacon , Kimberly Dooley , Joshua Burns , John Day , Shawna Feely , Richard S Finkel , Tiffany Grider , Laurie Gutmann , David N Herrmann , Callyn A Kirk , Sarrah A Knause , Matilde Laurá , Richard A Lewis , Jun Li , Thomas E Lloyd , Isabella Moroni , Francesco Muntoni , Emanuela Pagliano , Chiara Pisciotta , Giuseppe Piscosquito , Sindhu Ramchandren , Mario Saporta , Reza Sadjadi , Rosemary R Shy , Carly E Siskind , Charlotte J Sumner , David Walk , Janel Wilcox , Sabrina W Yum , Stephan Züchner , Steven S Scherer , Davide Pareyson , Mary M Reilly , Michael E Shy , Auteur inconnu

Balance impairment in pediatric charcot-marie-tooth disease.

Muscle & nerve

Avec: Timothy Estilow , Allan M Glanzman , Joshua Burns , Ann Harrington , Kayla Cornett , Manoj P Menezes , Rosemary Shy , Isabella Moroni , Emanuela Pagliano , Davide Pareyson , Trupti Bhandari , Francesco Muntoni , Matilde Laurá , Mary M Reilly , Richard S Finkel , Kate J Eichinger , David N Herrmann , Gregory Troutman , Paula Bray , Mark Halaki , Michael E Shy , Sabrina W Yum , Auteur inconnu

Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy.

European journal of neurology

Avec: L S Politi , A Castellano , N Papinutto , E Mauro , D Pareyson , R G Henry , A Falini , E Salsano

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

Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry.

Neurology

Avec: Chiara Pisciotta , Daniela Calabrese , Lucio Santoro , Irene Tramacere , Fiore Manganelli , Gian Maria Fabrizi , Angelo Schenone , Tiziana Cavallaro , Marina Grandis , Stefano C Previtali , Isabella Allegri , Luca Padua , Costanza Pazzaglia , Paola Saveri , Aldo Quattrone , Paola Valentino , Stefano Tozza , Luca Gentile , Massimo Russo , Anna Mazzeo , Maria Claudia Trapasso , Fabio Parazzini , Giuseppe Vita , Davide Pareyson , Auteur inconnu

Dysregulation of Muscle-Specific MicroRNAs as Common Pathogenic Feature Associated with Muscle Atrophy in ALS, SMA and SBMA: Evidence from Animal Models and Human Patients.

International journal of molecular sciences

Avec: Claudia Malacarne , Mariarita Galbiati , Eleonora Giagnorio , Paola Cavalcante , Franco Salerno , Francesca Andreetta , Cinza Cagnoli , Michela Taiana , Monica Nizzardo , Stefania Corti , Viviana Pensato , Anna Venerando , Cinzia Gellera , Silvia Fenu , Davide Pareyson , Riccardo Masson , Lorenzo Maggi , Eleonora Dalla Bella , Giuseppe Lauria , Renato Mantegazza , Pia Bernasconi , Angelo Poletti , Silvia Bonanno , Stefania Marcuzzo

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

Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?

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

Avec: Fabiana Colucci , Daniela Di Bella , Chiara Pisciotta , Elisa Sarto , Francesca Gualandi , Marcella Neri , Alessandra Ferlini , Elena Contaldi , Maura Pugliatti , Davide Pareyson , Mariachiara Sensi

Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A.

Frontiers in neurology

Avec: Katy Eichinger , Janet E Sowden , Joshua Burns , Michael P McDermott , Jeffrey Krischer , John Thornton , Davide Pareyson , Steven S Scherer , Michael E Shy , Mary M Reilly , David N Herrmann

The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA).

Scientific reports

Avec: Lorenzo Blasi , Daniele Sabbatini , Andrea Fortuna , Giorgia Querin , Ilaria Martinelli , Sara Vianello , Cinzia Bertolin , Davide Pareyson , Maria Pennuto , Elena Pegoraro , Luca Bello , Gianni Sorarù

Serum Neurofilament Light Chain in Replication Factor Complex Subunit 1 CANVAS and Disease Spectrum.

Movement disorders : official journal of the Movement Disorder Society

Avec: Ilaria Quartesan , Elisa Vegezzi , Riccardo Currò , Amanda Heslegrave , Chiara Pisciotta , Pablo Iruzubieta , Alessandro Salvalaggio , Gorka Fernández-Eulate , Natalia Dominik , Bianca Rugginini , Arianna Manini , Elena Abati , Stefano Facchini , Katarina Manso , Ines Albajar , Rhiannon Laban , Alexander M Rossor , Anna Pichiecchio , Giuseppe Cosentino , Paola Saveri , Ettore Salsano , Francesca Andreetta , Enza M Valente , Henrik Zetterberg , Paola Giunti , Tanya Stojkovic , Chiara Briani , Adolfo López de Munain , Davide Pareyson , Mary M Reilly , Henry Houlden , Cristina Tassorelli , Andrea Cortese

Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.

Brain : a journal of neurology

Avec: Riccardo Currò , Natalia Dominik , Stefano Facchini , Elisa Vegezzi , Roisin Sullivan , Valentina Galassi Deforie , Gorka Fernández-Eulate , Andreas Traschütz , Salvatore Rossi , Matteo Garibaldi , Mariusz Kwarciany , Franco Taroni , Alfredo Brusco , Jean-Marc Good , Francesca Cavalcanti , Simon Hammans , Gianina Ravenscroft , Richard H Roxburgh , Auteur inconnu , Ricardo Parolin Schnekenberg , Bianca Rugginini , Elena Abati , Arianna Manini , Ilaria Quartesan , Arianna Ghia , Adolfo Lòpez de Munaìn , Fiore Manganelli , Marina Kennerson , Filippo Maria Santorelli , Jon Infante , Wilson Marques , Manu Jokela , Sinéad M Murphy , Paola Mandich , Gian Maria Fabrizi , Chiara Briani , David Gosal , Davide Pareyson , Alberto Ferrari , Ferran Prados , Tarek Yousry , Vikram Khurana , Sheng-Han Kuo , James Miller , Claire Troakes , Zane Jaunmuktane , Paola Giunti , Annette Hartmann , Nazli Basak , Matthis Synofzik , Tanya Stojkovic , Marios Hadjivassiliou , Mary M Reilly , Henry Houlden , Andrea Cortese

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

Multicenter Validation of the Charcot-Marie-Tooth Functional Outcome Measure.

Neurology

Avec: Melissa R Mandarakas , Katy J Eichinger , Paula Bray , Kayla M D Cornett , Michael E Shy , Mary M Reilly , Gita M Ramdharry , Steven S Scherer , Davide Pareyson , Timothy Estilow , Marnee J McKay , Auteur inconnu , David N Herrmann , Joshua Burns

Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.

Neurology

Avec: Reza Sadjadi , Vincent Picher-Martel , Jasper M Morrow , Daniel Thedens , Paul A DiCamillo , Brett A McCray , Davide Pareyson , David N Herrmann , Mary M Reilly , Jun Li , Diana Castro , Michael E Shy , Auteur inconnu

Réseau de co-auteurs

Davide Pareyson 76 collaborations

Chiara Pisciotta 31 collaborations

None None 29 collaborations

Mary M Reilly 25 collaborations

David N Herrmann 21 collaborations

Michael E Shy 21 collaborations

Franco Taroni 19 collaborations

Gian Maria Fabrizi 18 collaborations

Fiore Manganelli 17 collaborations

Paola Saveri 16 collaborations

Angelo Schenone 15 collaborations

Steven S Scherer 15 collaborations

Stefania Magri 15 collaborations

Anna Mazzeo 14 collaborations

Stefano Tozza 13 collaborations

Joshua Burns 13 collaborations

Tiziana Cavallaro 12 collaborations

Silvia Fenu 12 collaborations

Marina Grandis 12 collaborations

Massimo Russo 12 collaborations

Sabrina W Yum 12 collaborations

Isabella Moroni 12 collaborations

Giuseppe Vita 11 collaborations

Ettore Salsano 11 collaborations

Richard S Finkel 11 collaborations

Lucio Santoro 11 collaborations

Luca Gentile 10 collaborations

Emanuela Pagliano 10 collaborations

Luca Padua 10 collaborations

Irene Tramacere 9 collaborations

Jun Li 8 collaborations

Francesco Muntoni 8 collaborations

Stefano C Previtali 8 collaborations

Costanza Pazzaglia 8 collaborations

Daniela Di Bella 7 collaborations

Sindhu Ramchandren 7 collaborations

Aldo Quattrone 7 collaborations

Paola Valentino 7 collaborations

Marco Luigetti 6 collaborations

Thomas E Lloyd 6 collaborations

Reza Sadjadi 6 collaborations

Alessandro Bertini 6 collaborations

Isabella Allegri 6 collaborations

Daniela Calabrese 6 collaborations

Henry Houlden 6 collaborations

Tanya Stojkovic 6 collaborations

Cinzia Gellera 6 collaborations

Charlotte J Sumner 5 collaborations

Stephan Züchner 5 collaborations

Chiara Benzoni 5 collaborations

Elisa Sarto 5 collaborations

Laura Obici 5 collaborations

Chiara Gemelli 5 collaborations

Sylvie Piacentini 5 collaborations

Alexander M Rossor 5 collaborations

Stephan Zuchner 5 collaborations

Andrea Cortese 5 collaborations

Kayla M D Cornett 5 collaborations

Katy J Eichinger 5 collaborations

Giuseppe Piscosquito 5 collaborations

Timothy Estilow 5 collaborations

Janet E Sowden 5 collaborations

Chiara Briani 5 collaborations

Matteo Tagliapietra 4 collaborations

Mario Sabatelli 4 collaborations

Adriana P Rebelo 4 collaborations

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Emilia Bellone 4 collaborations

Richard A Lewis 4 collaborations

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Matilde Laura 4 collaborations

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Paula Bray 4 collaborations

Rosemary R Shy 4 collaborations

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Maria Foscan 4 collaborations

Paola Mandich 4 collaborations

Antonio Toscano 4 collaborations

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Matthis Synofzik 4 collaborations

Menelaos Pipis 4 collaborations

Alessandra Bolino 4 collaborations

Giulia Bisogni 3 collaborations

Sara Massucco 3 collaborations

Callyn A Kirk 3 collaborations

Mario A Saporta 3 collaborations

John W Day 3 collaborations

Byung-Ok Choi 3 collaborations

Marco Moscatelli 3 collaborations

Luisa Chiapparini 3 collaborations

Stefania Bianchi-Marzoli 3 collaborations

Brett A McCray 3 collaborations

Vera Fridman 3 collaborations

Matilde Laurá 3 collaborations

John Day 3 collaborations

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Gyula Acsadi 3 collaborations

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Gianluca Marucci 2 collaborations

C Gemelli 2 collaborations

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