Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia

JAMA Neurology

Volumn 72, Issue 5, 2015, Pages 561-570

  Rinaldi, Carlo ^a   Schmidt, Thomas ^b   Situ, Alan J ^b   Johnson, Janel O ^c   Lee, Philip R ^d   Chen, Ke Lian ^a   Bott, Laura C ^a,e   Fadó, Rut ^f   Harmison, George H ^a   Parodi, Sara ^a,g   Grunseich, Christopher ^a   Renvoisé, Benoît ^a   Biesecker, Leslie G ^h   De Michele, Giuseppe ⁱ   Santorelli, Filippo M ^j   Filla, Alessandro ⁱ   Stevanin, Giovanni ^k,l   Dürr, Alexandra ^k,l,m   Brice, Alexis ^k,l,m   Casals, Núria ^f   Traynor, Bryan J ^c   Blackstone, Craig ^a   Ulmer, Tobias S ^b   Fischbeck, Kenneth H ^a   more..

^a NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c NATIONAL INSTITUTE ON AGING   (United States)

^d EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^e KAROLINSKA INSTITUTE   (Sweden)

^f UNIVERSITAT INTERNACIONAL DE CATALUNYA   (Spain)

^g ISTITUTO ITALIANO DI TECNOLOGIA   (Italy)

^h NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

ⁱ UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^j DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^k INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^l SORBONNE UNIVERSITÉ   (France)

^m ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ATLASTIN 1; CARNITINE PALMITOYLTRANSFERASE 1C; CARNITINE PALMITOYLTRANSFERASE I; CELL PROTEIN; FAT DROPLET; UNCLASSIFIED DRUG; CARNITINE PALMITOYLTRANSFERASE; CPT1B PROTEIN, HUMAN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; ATL1 GENE; AUTOSOMAL DOMINANT DISORDER; BRAIN NERVE CELL; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; EXOME; FAMILY HISTORY; FOLLOW UP; GENE EXPRESSION; GENE PRODUCT; GENETIC ASSOCIATION; GENETIC PROCEDURES; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; LIPOGENESIS; MOLECULAR PATHOLOGY; MOTONEURON; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN PROTEIN INTERACTION; SANGER SEQUENCING; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TERTIARY CARE CENTER; WHOLE XOME SEQUENCING; WILD TYPE MOUSE; ANIMAL; GENETICS; ITALY; KNOCKOUT MOUSE; MIDDLE AGED; MUTATION; PEDIGREE;

ADULT; ANIMALS; CARNITINE O-PALMITOYLTRANSFERASE; HUMANS; ITALY; MICE; MICE, KNOCKOUT; MIDDLE AGED; MUTATION; PEDIGREE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84938487028     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2014.4769     Document Type: Article

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