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

Amyotrophic Lateral Sclerosis

Volumn 13, Issue 1, 2012, Pages 144-148

  Origone, Paola ^a   Caponnetto, Claudia ^a   Mantero, Vittorio ^a   Cichero, Elena ^b   Fossa, Paola ^b   Geroldi, Alessandro ^a   Verdiani, Simonetta ^a   Bellone, Emilia ^a   Mancardi, Gianluigi ^a   Mandich, Paola ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

Author keywords

ALS; Genetics; Mutation; SOD1

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; GENOMIC DNA; GLYCINE; RILUZOLE; SERINE;

ADL DISABILITY; ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BIOINFORMATICS; CASE REPORT; CODON; COMPUTER ANALYSIS; DISEASE COURSE; DISEASE EXACERBATION; DYSPHAGIA; DYSPNEA; ELECTROMYOGRAPHY; FASCICULATION; HETEROZYGOSITY; HOARSENESS; HUMAN; HYPOTROPHY; ITALY; LATENT PERIOD; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MOLECULAR MODEL; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE REINNERVATION; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STRIDOR; TONGUE DISEASE; TRACHEOSTOMY; VOCAL CORD PARALYSIS;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; POINT MUTATION; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT; SUPEROXIDE DISMUTASE; VOCAL CORD PARALYSIS;

EID: 84855397243     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482968.2011.614254     Document Type: Article

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