Advanced search
Publication Cover
Amyotrophic Lateral Sclerosis Volume 13, 2012 - Issue 1
Journal homepage
262
Views
12
CrossRef citations to date
0
Altmetric
Research Article

Fast course ALS presenting with vocal cord paralysis: Clinical features, bioinformatic and modelling analysis of the novel SOD1 Gly147Ser mutation

Paola OrigoneDepartment of Biology and Genetics, University of Genoa and U.O.C. Medical Genetics of Azienda Ospedaliera Universitaria S. Martino di Genova
,
Claudia CaponnettoDepartment of Neuroscience, Ophthalmology and Genetics – Section of Neurology, University of Genoa and U.O. Neurology of Azienda Ospedaliera Universitaria S. Martino di Genova
,
Vittorio ManteroDepartment of Neuroscience, Ophthalmology and Genetics – Section of Neurology, University of Genoa and U.O. Neurology of Azienda Ospedaliera Universitaria S. Martino di Genova
,
Elena CicheroDepartment of Pharmaceutical Sciences, University of Genoa
,
Paola FossaDepartment of Pharmaceutical Sciences, University of Genoa
,
Alessandro GeroldiDepartment of Neuroscience, Ophthalmology and Genetics – Section of Medical Genetics, University of Genoa and U.O.C. Medical Genetics of Azienda Ospedaliera Universitaria S. Martino di Genova, Italy
,
Simonetta VerdianiDepartment of Neuroscience, Ophthalmology and Genetics – Section of Medical Genetics, University of Genoa and U.O.C. Medical Genetics of Azienda Ospedaliera Universitaria S. Martino di Genova, Italy
,
Emilia BelloneDepartment of Neuroscience, Ophthalmology and Genetics – Section of Medical Genetics, University of Genoa and U.O.C. Medical Genetics of Azienda Ospedaliera Universitaria S. Martino di Genova, Italy
,
Gianluigi MancardiDepartment of Neuroscience, Ophthalmology and Genetics – Section of Neurology, University of Genoa and U.O. Neurology of Azienda Ospedaliera Universitaria S. Martino di Genova
&
Paola MandichDepartment of Neuroscience, Ophthalmology and Genetics – Section of Medical Genetics, University of Genoa and U.O.C. Medical Genetics of Azienda Ospedaliera Universitaria S. Martino di Genova, ItalyCorrespondence[email protected]
 show all
Pages 144-148 | Received 15 Apr 2011, Accepted 10 Aug 2011, Published online: 19 Sep 2011

Citations (12)

Keep up to date with the latest research on this topic with citation updates for this article.

Subscribe to citation updates

Read on this site (1)

Monica Bandettini di Poggio, Maria Pia Sormani, Romina Truffelli, Paola Mandich, Paola Origone, Simonetta Verdiani, Vittorio Mantero, Carlo Scialó, Angelo Schenone, Giovanni Luigi Mancardi & Claudia Caponnetto. (2013) Clinical epidemiology of ALS in Liguria, Italy. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 14:1, pages 52-57.
Read now

Articles from other publishers (11)

Saiumaeswar Yogakanthi, Christine Wools & Susan Mathers. (2021) Unilateral vocal cord adductor weakness: an atypical manifestation of motor neurone disease. BMJ Neurology Open 3:2, pages e000205.
Crossref
Giuliana Capece, Mauro Ceroni, Enrico Alfonsi, Ilaria Palmieri, Cristina Cereda & Luca Diamanti. (2021) Case Report: Laryngospasm as Initial Manifestation of Amyotrophic Lateral Sclerosis in a Long-Survival Patient With Heterozygous p.D90A – SOD1 Mutation. Frontiers in Neurology 12.
Crossref
Brian Gordon, Eimear Joyce & Timothy J Counihan. (2021) Stridor: a rare presentation of motor neuron disease. BMJ Case Reports 14:7, pages e241923.
Crossref
Emilien Bernard, Antoine Pegat, Juliette Svahn, Françoise Bouhour, Pascal Leblanc, Stéphanie Millecamps, Stéphane Thobois, Claire Guissart, Serge Lumbroso & Kevin Mouzat. (2020) Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study. International Journal of Molecular Sciences 21:18, pages 6807.
Crossref
Rebecca Shaw, Cristina Dias, Jeffrey Ludemann, Rosemarie Rupps, Vance Tsai & Anna Lehman. (2018) Familial impairment of vocal cord mobility in childhood with clubfoot. Clinical Dysmorphology 27:4, pages 116-121.
Crossref
Merit Lamp, Paola Origone, Alessandro Geroldi, Simonetta Verdiani, Fabio Gotta, Claudia Caponnetto, Grazia Devigili, Lorenzo Verriello, Carlo Scialò, Corrado Cabona, Antonio Canosa, Irene Vanni, Emilia Bellone, Roberto Eleopra & Paola Mandich. (2018) Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients. Neurobiology of Aging 66, pages 179.e5-179.e16.
Crossref
Masahiro Okazaki, Hidekazu Suzuki, Yuji Takahashi, Hiroyuki Ishiura, Jun Goto, Makito Hirano, Kazumasa Saigoh, Yusaku Nakamura, Hiroya Naruse, Jun Mitsui, Shoji Tsuji & Susumu Kusunoki. (2017) Novel mutation in the SOD 1 gene in a patient with early‐onset, rapidly progressive amyotrophic lateral sclerosis . Neurology and Clinical Neuroscience 5:6, pages 189-191.
Crossref
Pascaline Clerc, Scott Lipnick & Catherine Willett. (2016) A look into the future of ALS research. Drug Discovery Today 21:6, pages 939-949.
Crossref
Paola Fossa & Elena Cichero. (2015) In silico evaluation of human small heat shock protein HSP27: Homology modeling, mutation analyses and docking studies. Bioorganic & Medicinal Chemistry 23:13, pages 3215-3220.
Crossref
Amy K Hsu, David E. Rosow, Robert J. Wallerstein & Max M. April. (2015) Familial congenital bilateral vocal fold paralysis: A novel gene translocation. International Journal of Pediatric Otorhinolaryngology 79:3, pages 323-327.
Crossref
Antonio Canosa, Andrea Calvo, Cristina Moglia, Barbara Iazzolino, Maura Brunetti, Gabriella Restagno, Angelina Cistaro, Piercarlo Fania, Giovanna Carrara, Maria Consuelo Valentini, Raffaella Tanel & Adriano Chiò. (2014) A familial ALS case carrying a novel p.G147C SOD1 heterozygous missense mutation with non-executive cognitive impairment: Figure 1 . Journal of Neurology, Neurosurgery & Psychiatry 85:12, pages 1437-1439.
Crossref

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.