Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features

Acta Neuropathologica

Volumn 120, Issue 6, 2010, Pages 803-812

  Giaccone, Giorgio ^a   Morbin, Michela ^a   Moda, Fabio ^a   Botta, Mario ^a   Mazzoleni, Giulia ^a   Uggetti, Andrea ^a   Catania, Marcella ^a   Moro, Maria Luisa ^a   Redaelli, Veronica ^a   Spagnoli, Alberto ^b   Rossi, Roberta Simona ^c   Salmona, Mario ^d   Fede, Giuseppe Di ^a   Tagliavini, Fabrizio ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b Centro Medico Sant'Ambrogio   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d MARIO NEGRI INSTITUTE FOR PHARMACOLOGICAL RESEARCH   (Italy)

Author keywords

A ; Alzheimer's disease; APP mutation; Genetic; Neuropathology; Recessive

Indexed keywords

ALANINE; AMYLOID BETA PROTEIN; AMYLOID BETA PROTEIN[1-40]; AMYLOID BETA PROTEIN[1-42]; AMYLOID PRECURSOR PROTEIN; CYTOSINE; TAU PROTEIN; THYMINE; VALINE;

ADULT; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; BEHAVIOR DISORDER; CASE REPORT; CEREBELLUM; CLINICAL FEATURE; COGNITIVE DEFECT; COMMUNICATION DISORDER; CORPUS STRIATUM; DEMENTIA; DISEASE COURSE; DISEASE SEVERITY; DOMINANT INHERITANCE; FATALITY; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INCONTINENCE; MALE; NEUROPATHOLOGY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN LOCALIZATION; RECESSIVE INHERITANCE; SPASTIC PARAPLEGIA;

ALANINE; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; AMYLOID BETA-PEPTIDES; AMYLOID BETA-PROTEIN PRECURSOR; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; VALINE;

EID: 78651100067     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-010-0747-1     Document Type: Article

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