Literature DB >> 22291064

Muscle MRI in TRPV4-related congenital distal SMA.

G Astrea1, G Brisca, C Fiorillo, M Valle, M Tosetti, C Bruno, F M Santorelli, R Battini.   

Abstract

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Year:  2012        PMID： 22291064     DOI： 10.1212/WNL.0b013e318245295a

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  10 in total

1.  Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Authors:  Alexander M Rossor; Emily C Oates; Hannah K Salter; Yang Liu; Sinead M Murphy; Rebecca Schule; Michael A Gonzalez; Mariacristina Scoto; Rahul Phadke; Caroline A Sewry; Henry Houlden; Albena Jordanova; Iyailo Tournev; Teodora Chamova; Ivan Litvinenko; Stephan Zuchner; David N Herrmann; Julian Blake; Janet E Sowden; Gyuda Acsadi; Michael L Rodriguez; Manoj P Menezes; Nigel F Clarke; Michaela Auer Grumbach; Simon L Bullock; Francesco Muntoni; Mary M Reilly; Kathryn N North
Journal:  Brain       Date:  2014-12-14       Impact factor: 13.501

Review 2.  The puzzle of TRPV4 channelopathies.

Authors:  Bernd Nilius; Thomas Voets
Journal:  EMBO Rep       Date:  2013-01-11       Impact factor: 8.807

3.  Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

Authors:  Chiara Fiorillo; Francesca Moro; Julie Yi; Sarah Weil; Giacomo Brisca; Guja Astrea; Mariasavina Severino; Alessandro Romano; Roberta Battini; Andrea Rossi; Carlo Minetti; Claudio Bruno; Filippo M Santorelli; Richard Vallee
Journal:  Hum Mutat       Date:  2014-01-03       Impact factor: 4.878

4.  Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Authors:  Mariacristina Scoto; Alexander M Rossor; Matthew B Harms; Sebahattin Cirak; Mattia Calissano; Stephanie Robb; Adnan Y Manzur; Amaia Martínez Arroyo; Aida Rodriguez Sanz; Sahar Mansour; Penny Fallon; Irene Hadjikoumi; Andrea Klein; Michele Yang; Marianne De Visser; W C G Truus Overweg-Plandsoen; Frank Baas; J Paul Taylor; Michael Benatar; Anne M Connolly; Muhammad T Al-Lozi; John Nixon; Christian G E L de Goede; A Reghan Foley; Catherine Mcwilliam; Matthew Pitt; Caroline Sewry; Rahul Phadke; Majid Hafezparast; W K Kling Chong; Eugenio Mercuri; Robert H Baloh; Mary M Reilly; Francesco Muntoni
Journal:  Neurology       Date:  2015-01-21       Impact factor: 9.910

5.  Phenotypic variability of TRPV4 related neuropathies.

Authors:  Teresinha Evangelista; Boglarka Bansagi; Angela Pyle; Helen Griffin; Konstantinos Douroudis; Tuomo Polvikoski; Thalia Antoniadi; Kate Bushby; Volker Straub; Patrick F Chinnery; Hanns Lochmüller; Rita Horvath
Journal:  Neuromuscul Disord       Date:  2015-03-18       Impact factor: 4.296

Review 6.  Congenital myopathies: clinical phenotypes and new diagnostic tools.

Authors:  Denise Cassandrini; Rosanna Trovato; Anna Rubegni; Sara Lenzi; Chiara Fiorillo; Jacopo Baldacci; Carlo Minetti; Guja Astrea; Claudio Bruno; Filippo M Santorelli
Journal:  Ital J Pediatr       Date:  2017-11-15       Impact factor: 2.638

Review 7.  Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.

Authors:  Hooi Ling Teoh; Kate Carey; Hugo Sampaio; David Mowat; Tony Roscioli; Michelle Farrar
Journal:  Neural Plast       Date:  2017-05-28       Impact factor: 3.599

Review 8.  TRPing to the Point of Clarity: Understanding the Function of the Complex TRPV4 Ion Channel.

Authors:  Trine L Toft-Bertelsen; Nanna MacAulay
Journal:  Cells       Date:  2021-01-15       Impact factor: 6.600

9.  Characterization of functional TRPV1 channels in the sarcoplasmic reticulum of mouse skeletal muscle.

Authors:  Sabine Lotteau; Sylvie Ducreux; Caroline Romestaing; Claude Legrand; Fabien Van Coppenolle
Journal:  PLoS One       Date:  2013-03-11       Impact factor: 3.240

10.  MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Authors:  C Fiorillo; G Astrea; M Savarese; D Cassandrini; G Brisca; F Trucco; M Pedemonte; R Trovato; L Ruggiero; L Vercelli; A D'Amico; G Tasca; M Pane; M Fanin; L Bello; P Broda; O Musumeci; C Rodolico; S Messina; G L Vita; M Sframeli; S Gibertini; L Morandi; M Mora; L Maggi; A Petrucci; R Massa; M Grandis; A Toscano; E Pegoraro; E Mercuri; E Bertini; T Mongini; L Santoro; V Nigro; C Minetti; F M Santorelli; C Bruno
Journal:  Orphanet J Rare Dis       Date:  2016-07-07       Impact factor: 4.123
  10 in total

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