Martino Montomoli

Affiliations

Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, A. Meyer Children's Hospital, University of Florence, Florence, Italy.

Publications (9)

Lessons learned from 40 novel PIGA patients and a review of the literature.

Epilepsia

Avec: Allan Bayat , Alexej Knaus , Manuela Pendziwiat , Alexandra Afenjar , Tahsin Stefan Barakat , Friedrich Bosch , Bert Callewaert , Patrick Calvas , Berten Ceulemans , Nicolas Chassaing , Christel Depienne , Milda Endziniene , Carlos R Ferreira , Carolina Fischinger Moura de Souza , Cécile Freihuber , Shiva Ganesan , Svetlana Gataullina , Renzo Guerrini , Anne-Marie Guerrot , Lars Hansen , Aleksandra Jezela-Stanek , Caroline Karsenty , Anneke Kievit , Frank R Kooy , Christian M Korff , Johanne Kragh Hansen , Martin Larsen , Valérie Layet , Gaetan Lesca , Kim L McBride , Marije Meuwissen , Cyril Mignot , Hannah Moore , Sophie Naudion , Caroline Nava , Marie-Christine Nougues , Elena Parrini , Matthew Pastore , Jurgen H Schelhaas , Steven Skinner , Krzysztoł Szczałuba , Ashley Thomas , Mads Thomassen , Lisbeth Tranebjaerg , Marjon van Slegtenhorst , Lynne A Wolfe , Dennis Lal , Elena Gardella , Lilian Bomme Ousager , Tobias Brünger , Ingo Helbig , Peter Krawitz , Rikke S Møller

Neurology

Avec: Danique R M Vlaskamp , Benjamin J Shaw , Rosemary Burgess , Davide Mei , Han Xie , Candace T Myers , Mark F Bennett , Wenshu XiangWei , Danielle Williams , Saskia M Maas , Alice S Brooks , Grazia M S Mancini , Ingrid M B H van de Laar , Johanna M van Hagen , Tyson L Ware , Richard I Webster , Stephen Malone , Samuel F Berkovic , Renate M Kalnins , Federico Sicca , G Christoph Korenke , Conny M A van Ravenswaaij-Arts , Michael S Hildebrand , Heather C Mefford , Yuwu Jiang , Renzo Guerrini , Ingrid E Scheffer

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Marjolein J A Weerts , Kristina Lanko , Francisco J Guzmán-Vega , Adam Jackson , Reshmi Ramakrishnan , Kelly J Cardona-Londoño , Karla A Peña-Guerra , Yolande van Bever , Barbara W van Paassen , Anneke Kievit , Marjon van Slegtenhorst , Nicholas M Allen , Caroline M Kehoe , Hannah K Robinson , Lewis Pang , Selina H Banu , Mashaya Zaman , Stephanie Efthymiou , Henry Houlden , Irma Järvelä , Leena Lauronen , Tuomo Määttä , Isabelle Schrauwen , Suzanne M Leal , Claudia A L Ruivenkamp , Daniela Q C M Barge-Schaapveld , Cacha M P C D Peeters-Scholte , Hamid Galehdari , Neda Mazaheri , Sanjay M Sisodiya , Victoria Harrison , Angela Sun , Jenny Thies , Luis Alberto Pedroza , Yana Lara-Taranchenko , Ivan K Chinn , James R Lupski , Alexandra Garza-Flores , Jeffery McGlothlin , Lin Yang , Shaoping Huang , Xiaodong Wang , Tamison Jewett , Gretchen Rosso , Xi Lin , Shehla Mohammed , J Lawrence Merritt , Ghayda M Mirzaa , Andrew E Timms , Joshua Scheck , Mariet W Elting , Abeltje M Polstra , Lauren Schenck , Maura R Z Ruzhnikov , Annalisa Vetro , Renzo Guerrini , Daniel C Koboldt , Theresa Mihalic Mosher , Matthew T Pastore , Kim L McBride , Jing Peng , Zou Pan , Marjolein Willemsen , Susanne Koning , Peter D Turnpenny , Bert B A de Vries , Christian Gilissen , Rolph Pfundt , Melissa Lees , Stephen R Braddock , Kara C Klemp , Fleur Vansenne , Marielle E van Gijn , Catherine Quindipan , Matthew A Deardorff , J Austin Hamm , Abbey M Putnam , Rebecca Baud , Laurence Walsh , Sally A Lynch , Julia Baptista , Richard E Person , Kristin G Monaghan , Amy Crunk , Jennifer Keller-Ramey , Adi Reich , Houda Zghal Elloumi , Marielle Alders , Jennifer Kerkhof , Haley McConkey , Sadegheh Haghshenas , Auteur inconnu , Reza Maroofian , Bekim Sadikovic , Siddharth Banka , Stefan T Arold , Tahsin Stefan Barakat

Healthcare professional education in shared decision making in the context of chronic kidney disease: a scoping review.

BMC nephrology

Avec: Björn Meijers , Karolien Wellekens , Marco Montomoli , Karmela Altabas , Jessica Geter , Kate McCarthy , Thierry Lobbedez , Rumeyza Kazancioglu , Nicola Thomas

Experience with abatacept in refractory lupus nephritis.

Rheumatology international

Avec: Emma Calatayud , Marco Montomoli , Ana Ávila , Asunción Sancho Calabuig , Juan José Alegre-Sancho

Multiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Simone Gasparini , Simona Balestrini , Luigi Francesco Saccaro , Giacomo Bacci , Giorgia Panichella , Gaetano Cantalupo , Stefania Bigoni , Giorgia Mancano , Simona Pellacani , Vincenzo Leuzzi , Nila Volpi , Francesco Mari , Federico Melani , Mara Cavallin , Tiziana Pisano , Giulio Porcedda , Augusto Vaglio , Davide Mei , Carmen Barba , Elena Parrini , Renzo Guerrini

Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients.

Molecular genetics and metabolism

Avec: Eleonora Mura , Francesco Nicita , Silvia Masnada , Roberta Battini , Chiara Ticci , Angela Berardinelli , Chiara Pantaleoni , Anna Ardissone , Thomas Foiadelli , Elena Tartara , Ettore Salsano , Pierangelo Veggiotti , Isabella Ceccherini , Isabella Moroni , Enrico Bertini , Davide Tonduti

Deciphering the premature mortality in PIGA-CDG - An untold story.

Epilepsy research

Avec: Allan Bayat , Marius Kløvgaard , Katrine M Johannesen , Tahsin Stefan Barakat , Anneke Kievit , Elena Parrini , Nicola Pietrafusa , Jurgen Schelhaas , Marjon van Slegtenhorst , Kazushi Miya , Renzo Guerrini , Lisbeth Tranebjærg , Zeynep Tümer , Guido Rubboli , Rikke S Møller

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.

Journal of neurology, neurosurgery, and psychiatry

Avec: Simona Balestrini , Daniela Chiarello , Maria Gogou , Katri Silvennoinen , Clinda Puvirajasinghe , Wendy D Jones , Philipp Reif , Karl Martin Klein , Felix Rosenow , Yvonne G Weber , Holger Lerche , Susanne Schubert-Bast , Ingo Borggraefe , Antonietta Coppola , Serena Troisi , Rikke S Møller , Antonella Riva , Pasquale Striano , Federico Zara , Cheryl Hemingway , Carla Marini , Anna Rosati , Davide Mei , Renzo Guerrini , J Helen Cross , Sanjay M Sisodiya

Réseau de co-auteurs

Renzo Guerrini 6 collaborations

Tahsin Stefan Barakat 3 collaborations

Anneke Kievit 3 collaborations

Elena Parrini 3 collaborations

Marjon van Slegtenhorst 3 collaborations

Rikke S Møller 3 collaborations

Davide Mei 3 collaborations

Allan Bayat 2 collaborations

Kim L McBride 2 collaborations

Sanjay M Sisodiya 2 collaborations

Marco Montomoli 2 collaborations

Simona Balestrini 2 collaborations

Alexej Knaus 1 collaboration

Manuela Pendziwiat 1 collaboration

Alexandra Afenjar 1 collaboration

Friedrich Bosch 1 collaboration

Bert Callewaert 1 collaboration

Patrick Calvas 1 collaboration

Berten Ceulemans 1 collaboration

Nicolas Chassaing 1 collaboration

Christel Depienne 1 collaboration

Milda Endziniene 1 collaboration

Carlos R Ferreira 1 collaboration

Carolina Fischinger Moura de Souza 1 collaboration

Cécile Freihuber 1 collaboration

Shiva Ganesan 1 collaboration

Svetlana Gataullina 1 collaboration

Anne-Marie Guerrot 1 collaboration

Lars Hansen 1 collaboration

Aleksandra Jezela-Stanek 1 collaboration

Caroline Karsenty 1 collaboration

Frank R Kooy 1 collaboration

Christian M Korff 1 collaboration

Johanne Kragh Hansen 1 collaboration

Martin Larsen 1 collaboration

Valérie Layet 1 collaboration

Gaetan Lesca 1 collaboration

Marije Meuwissen 1 collaboration

Cyril Mignot 1 collaboration

Hannah Moore 1 collaboration

Sophie Naudion 1 collaboration

Caroline Nava 1 collaboration

Marie-Christine Nougues 1 collaboration

Matthew Pastore 1 collaboration

Jurgen H Schelhaas 1 collaboration

Steven Skinner 1 collaboration

Krzysztoł Szczałuba 1 collaboration

Ashley Thomas 1 collaboration

Mads Thomassen 1 collaboration

Lisbeth Tranebjaerg 1 collaboration

Lynne A Wolfe 1 collaboration

Dennis Lal 1 collaboration

Elena Gardella 1 collaboration

Lilian Bomme Ousager 1 collaboration

Tobias Brünger 1 collaboration

Ingo Helbig 1 collaboration

Peter Krawitz 1 collaboration

Danique R M Vlaskamp 1 collaboration

Benjamin J Shaw 1 collaboration

Rosemary Burgess 1 collaboration

Han Xie 1 collaboration

Candace T Myers 1 collaboration

Mark F Bennett 1 collaboration

Wenshu XiangWei 1 collaboration

Danielle Williams 1 collaboration

Saskia M Maas 1 collaboration

Alice S Brooks 1 collaboration

Grazia M S Mancini 1 collaboration

Ingrid M B H van de Laar 1 collaboration

Johanna M van Hagen 1 collaboration

Tyson L Ware 1 collaboration

Richard I Webster 1 collaboration

Stephen Malone 1 collaboration

Samuel F Berkovic 1 collaboration

Renate M Kalnins 1 collaboration

Federico Sicca 1 collaboration

G Christoph Korenke 1 collaboration

Conny M A van Ravenswaaij-Arts 1 collaboration

Michael S Hildebrand 1 collaboration

Heather C Mefford 1 collaboration

Yuwu Jiang 1 collaboration

Ingrid E Scheffer 1 collaboration

Marjolein J A Weerts 1 collaboration

Kristina Lanko 1 collaboration

Francisco J Guzmán-Vega 1 collaboration

Adam Jackson 1 collaboration

Reshmi Ramakrishnan 1 collaboration

Kelly J Cardona-Londoño 1 collaboration

Karla A Peña-Guerra 1 collaboration

Yolande van Bever 1 collaboration

Barbara W van Paassen 1 collaboration

Nicholas M Allen 1 collaboration

Caroline M Kehoe 1 collaboration

Hannah K Robinson 1 collaboration

Lewis Pang 1 collaboration

Selina H Banu 1 collaboration

Mashaya Zaman 1 collaboration

Stephanie Efthymiou 1 collaboration

Henry Houlden 1 collaboration

Irma Järvelä 1 collaboration

Leena Lauronen 1 collaboration

Tuomo Määttä 1 collaboration

Isabelle Schrauwen 1 collaboration

Suzanne M Leal 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Daniela Q C M Barge-Schaapveld 1 collaboration

Cacha M P C D Peeters-Scholte 1 collaboration

Hamid Galehdari 1 collaboration

Neda Mazaheri 1 collaboration

Victoria Harrison 1 collaboration

Angela Sun 1 collaboration

Jenny Thies 1 collaboration

Luis Alberto Pedroza 1 collaboration

Yana Lara-Taranchenko 1 collaboration

Ivan K Chinn 1 collaboration

James R Lupski 1 collaboration

Alexandra Garza-Flores 1 collaboration

Jeffery McGlothlin 1 collaboration

Lin Yang 1 collaboration

Shaoping Huang 1 collaboration

Xiaodong Wang 1 collaboration

Tamison Jewett 1 collaboration

Gretchen Rosso 1 collaboration

Xi Lin 1 collaboration

Shehla Mohammed 1 collaboration

J Lawrence Merritt 1 collaboration

Ghayda M Mirzaa 1 collaboration

Andrew E Timms 1 collaboration

Joshua Scheck 1 collaboration

Mariet W Elting 1 collaboration

Abeltje M Polstra 1 collaboration

Lauren Schenck 1 collaboration

Maura R Z Ruzhnikov 1 collaboration

Annalisa Vetro 1 collaboration

Daniel C Koboldt 1 collaboration

Theresa Mihalic Mosher 1 collaboration

Matthew T Pastore 1 collaboration

Jing Peng 1 collaboration

Zou Pan 1 collaboration

Marjolein Willemsen 1 collaboration

Susanne Koning 1 collaboration

Peter D Turnpenny 1 collaboration

Bert B A de Vries 1 collaboration

Christian Gilissen 1 collaboration

Rolph Pfundt 1 collaboration

Melissa Lees 1 collaboration

Stephen R Braddock 1 collaboration

Kara C Klemp 1 collaboration

Fleur Vansenne 1 collaboration

Marielle E van Gijn 1 collaboration

Catherine Quindipan 1 collaboration

Matthew A Deardorff 1 collaboration

J Austin Hamm 1 collaboration

Abbey M Putnam 1 collaboration

Rebecca Baud 1 collaboration

Laurence Walsh 1 collaboration

Sally A Lynch 1 collaboration

Julia Baptista 1 collaboration

Richard E Person 1 collaboration

Kristin G Monaghan 1 collaboration

Amy Crunk 1 collaboration

Jennifer Keller-Ramey 1 collaboration

Adi Reich 1 collaboration

Houda Zghal Elloumi 1 collaboration

Marielle Alders 1 collaboration

Jennifer Kerkhof 1 collaboration

Haley McConkey 1 collaboration

Sadegheh Haghshenas 1 collaboration

None None 1 collaboration

Reza Maroofian 1 collaboration

Bekim Sadikovic 1 collaboration

Siddharth Banka 1 collaboration

Stefan T Arold 1 collaboration

Björn Meijers 1 collaboration

Karolien Wellekens 1 collaboration

Karmela Altabas 1 collaboration

Jessica Geter 1 collaboration

Kate McCarthy 1 collaboration

Thierry Lobbedez 1 collaboration

Rumeyza Kazancioglu 1 collaboration

Nicola Thomas 1 collaboration

Emma Calatayud 1 collaboration

Ana Ávila 1 collaboration

Asunción Sancho Calabuig 1 collaboration

Juan José Alegre-Sancho 1 collaboration

Simone Gasparini 1 collaboration

Luigi Francesco Saccaro 1 collaboration

Giacomo Bacci 1 collaboration

Giorgia Panichella 1 collaboration

Gaetano Cantalupo 1 collaboration

Stefania Bigoni 1 collaboration

Giorgia Mancano 1 collaboration

Simona Pellacani 1 collaboration

Vincenzo Leuzzi 1 collaboration

Nila Volpi 1 collaboration

Francesco Mari 1 collaboration

Federico Melani 1 collaboration

Mara Cavallin 1 collaboration

Tiziana Pisano 1 collaboration

Giulio Porcedda 1 collaboration

Augusto Vaglio 1 collaboration

Carmen Barba 1 collaboration

Eleonora Mura 1 collaboration

Francesco Nicita 1 collaboration

Silvia Masnada 1 collaboration

Roberta Battini 1 collaboration

Chiara Ticci 1 collaboration

Angela Berardinelli 1 collaboration

Chiara Pantaleoni 1 collaboration

Anna Ardissone 1 collaboration

Thomas Foiadelli 1 collaboration

Elena Tartara 1 collaboration

Ettore Salsano 1 collaboration

Pierangelo Veggiotti 1 collaboration

Isabella Ceccherini 1 collaboration

Isabella Moroni 1 collaboration

Enrico Bertini 1 collaboration

Davide Tonduti 1 collaboration

Marius Kløvgaard 1 collaboration

Katrine M Johannesen 1 collaboration

Nicola Pietrafusa 1 collaboration

Jurgen Schelhaas 1 collaboration

Kazushi Miya 1 collaboration

Lisbeth Tranebjærg 1 collaboration

Zeynep Tümer 1 collaboration

Guido Rubboli 1 collaboration

Daniela Chiarello 1 collaboration

Maria Gogou 1 collaboration

Katri Silvennoinen 1 collaboration

Clinda Puvirajasinghe 1 collaboration

Wendy D Jones 1 collaboration

Philipp Reif 1 collaboration

Karl Martin Klein 1 collaboration

Felix Rosenow 1 collaboration

Yvonne G Weber 1 collaboration

Holger Lerche 1 collaboration

Susanne Schubert-Bast 1 collaboration

Ingo Borggraefe 1 collaboration

Antonietta Coppola 1 collaboration

Serena Troisi 1 collaboration

Antonella Riva 1 collaboration

Pasquale Striano 1 collaboration

Federico Zara 1 collaboration

Cheryl Hemingway 1 collaboration

Carla Marini 1 collaboration

Anna Rosati 1 collaboration

J Helen Cross 1 collaboration