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Literature DB >> 25511172

A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation.

Marina Scarlato¹, Arturo Nuara, Simonetta Gerevini, Sara Benedetti, Paolo Rossi, Maurizio Ferrari, Stefano Carlo Previtali.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2014 PMID： 25511172 DOI： 10.1007/s00415-014-7606-2

Source DB: PubMed Journal: J Neurol ISSN： 0340-5354 Impact factor: 4.849

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10 in total

1. Diagnostic criteria for facioscapulohumeral muscular dystrophy.

Authors: G W Padberg; P W Lunt; M Koch; M Fardeau
Journal: Neuromuscul Disord Date: 1991 Impact factor: 4.296

2. The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity.

Authors: R Schüle; T Holland-Letz; S Klimpe; J Kassubek; T Klopstock; V Mall; S Otto; B Winner; L Schöls
Journal: Neurology Date: 2006-08-08 Impact factor: 9.910

3. A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.

Authors: Costanza Lamperti; Greta Fabbri; Liliana Vercelli; Roberto D'Amico; Roberto Frusciante; Emanuela Bonifazi; Chiara Fiorillo; Carlo Borsato; Michelangelo Cao; Maura Servida; Francesca Greco; Rita Di Leo; Leda Volpi; Claudia Manzoli; Paola Cudia; Ebe Pastorello; Leopoldo Ricciardi; Gabriele Siciliano; Giuliana Galluzzi; Carmelo Rodolico; Lucio Santoro; Giuliano Tomelleri; Corrado Angelini; Enzo Ricci; Laura Palmucci; Maurizio Moggio; Rossella Tupler
Journal: Muscle Nerve Date: 2010-08 Impact factor: 3.217

4. Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Authors: N Fonknechten; D Mavel; P Byrne; C S Davoine; C Cruaud; D Bönsch; D Boentsch; D Samson; P Coutinho; M Hutchinson; P McMonagle; J M Burgunder; A Tartaglione; O Heinzlef; I Feki; T Deufel; N Parfrey; A Brice; B Fontaine; J F Prud'homme; J Weissenbach; A Dürr; J Hazan
Journal: Hum Mol Genet Date: 2000-03-01 Impact factor: 6.150

5. Botulinum neurotoxin type A injections reduce spasticity in mild to moderate hereditary spastic paraplegia--report of 19 cases.

Authors: Martin J Hecht; Henning Stolze; Matthias Auf dem Brinke; Ralf Giess; Thoams Treig; Martin Winterholler; Jörg Wissel
Journal: Mov Disord Date: 2008-01-30 Impact factor: 10.338

6. Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.

Authors: Massimiliano Filosto; Paola Tonin; Mauro Scarpelli; Chiara Savio; Francesca Greco; Michelangelo Mancuso; Gaetano Vattemi; Vittorio Govoni; Nicolò Rizzuto; Rossella Tupler; Giuliano Tomelleri
Journal: Neuromuscul Disord Date: 2008-03-14 Impact factor: 4.296

7. Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.

Authors: S Rudnik-Schöneborn; J Weis; W Kress; M Häusler; K Zerres
Journal: Neuromuscul Disord Date: 2008-08-05 Impact factor: 4.296

8. Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: a clinical and muscle MRI study.

Authors: M Masciullo; E Iannaccone; M L E Bianchi; M Santoro; G Conte; A Modoni; M Monforte; G Tasca; F Laschena; E Ricci; G Silvestri
Journal: Neuromuscul Disord Date: 2013-03-01 Impact factor: 4.296

9. Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.

Authors: Giulia Ricci; Isabella Scionti; Greta Alì; Leda Volpi; Virna Zampa; Marina Fanin; Corrado Angelini; Luisa Politano; Rossella Tupler; Gabriele Siciliano
Journal: Neuromuscul Disord Date: 2012-01-14 Impact factor: 4.296

10. Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.

Authors: Olivia Schreiber; Peter Schneiderat; Wolfram Kress; Bernd Rautenstrauss; Jan Senderek; Benedikt Schoser; Maggie C Walter
Journal: BMC Med Genet Date: 2013-09-16 Impact factor: 2.103

10 in total

1 in total

1. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.

Authors: Salvatore Rossi; Anna Rubegni; Vittorio Riso; Melissa Barghigiani; Maria Teresa Bassi; Roberta Battini; Enrico Bertini; Cristina Cereda; Ettore Cioffi; Chiara Criscuolo; Beatrice Dal Fabbro; Clemente Dato; Maria Grazia D'Angelo; Antonio Di Muzio; Luca Diamanti; Maria Teresa Dotti; Alessandro Filla; Valeria Gioiosa; Rocco Liguori; Andrea Martinuzzi; Roberto Massa; Andrea Mignarri; Rossana Moroni; Olimpia Musumeci; Francesco Nicita; Ilaria Orologio; Laura Orsi; Elena Pegoraro; Antonio Petrucci; Massimo Plumari; Ivana Ricca; Giovanni Rizzo; Silvia Romano; Roberto Rumore; Simone Sampaolo; Marina Scarlato; Marco Seri; Cristina Stefan; Giulia Straccia; Alessandra Tessa; Lorena Travaglini; Rosanna Trovato; Lucia Ulgheri; Giovanni Vazza; Antonio Orlacchio; Gabriella Silvestri; Filippo Maria Santorelli; Mariarosa Anna Beatrice Melone; Carlo Casali
Journal: Neurol Genet Date: 2022-03-30

1 in total