Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

Neurology

Volumn 82, Issue 22, 2014, Pages 1990-1998

  Di Fonzo, Alessio ^a   Ronchi, Dario ^a   Gallia, Francesca ^b   Cribiù, Fulvia Milena ^a   Trezzi, Ilaria ^a   Vetro, Annalisa ^c   Mina, Erika Della ^c   Limongelli, Ivan ^d   Bellazzi, Riccardo ^c   Ricca, Ivana ^d   Micieli, Giuseppe ^d   Fassone, Elisa ^e   Rizzuti, Mafalda ^a   Bordoni, Andreina ^a   Fortunato, Francesco ^a   Salani, Sabrina ^a   Mora, Gabriele ^f   Corti, Stefania ^a   Ceroni, Mauro ^c,d   Bosari, Silvano ^a   Zuffardi, Orsetta ^c,d   Bresolin, Nereo ^a   Nobile Orazio, Eduardo ^b   Comi, Giacomo Pietro ^a   more..

^a UNIVERSITY OF MILAN   (Italy)

^b HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f IRCCS   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TAU PROTEIN;

ADULT; AGED; ARM WEAKNESS; ARTICLE; CELL SURVIVAL; CHROMOSOME 17Q; CLINICAL ARTICLE; CLINICAL FEATURE; EXOME; FEMALE; GENE; GENE OVEREXPRESSION; GENOME ANALYSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; LINKAGE ANALYSIS; LOWER MOTONEURON DISEASE; MALE; MAPT GENE; MICROTUBULE; MISSENSE MUTATION; MOTONEURON; MOTOR NEURON DISEASE; MUTATIONAL ANALYSIS; NERVE CELL DEGENERATION; NERVE FIBER GROWTH; NEUROPATHOLOGY; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN INTERACTION; PROTEIN PHOSPHORYLATION; RESPIRATORY FAILURE; SPINAL CORD MOTONEURON; SPINAL CORD VENTRAL HORN; TAUOPATHY; WESTERN BLOTTING;

AGE OF ONSET; AGED; CELL LINE; CHROMOSOMES, HUMAN, PAIR 17; EXOME; FEMALE; HUMANS; ITALY; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION; PEDIGREE; PHENOTYPE; RESPIRATORY INSUFFICIENCY; TAU PROTEINS;

EID: 84904015566     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000476     Document Type: Article

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