Hereditary spastic paraplegia Type 43 (SPG43) is caused by mutation in C19orf12

Human Mutation

Volumn 34, Issue 10, 2013, Pages 1357-1360

  Landouré, Guida ^a,b   Zhu, Peng Peng ^b   Lourenço, Charles M ^c   Johnson, Janel O ^d   Toro, Camilo ^e   Bricceno, Katherine V ^b   Rinaldi, Carlo ^b   Meilleur, Katherine G ^f   Sangaré, Modibo ^b   Diallo, Oumarou ^b   Pierson, Tyler M ^b,e   Ishiura, Hiroyuki ^g   Tsuji, Shoji ^g   Hein, Nichole ^h   Fink, John K ^h,i   Stoll, Marion ^j   Nicholson, Garth ^j   Gonzalez, Michael A ^k   Speziani, Fiorella ^k   Dürr, Alexandra ^l   Stevanin, Giovanni ^l,m   Biesecker, Leslie G ^e   Accardi, John ^e   Landis, Dennis M D ^e   Gahl, William A ^e   Traynor, Bryan J ^d   Marques, Wilson ^c   Züchner, Stephan ^k   Blackstone, Craig ^b   Fischbeck, Kenneth H ^b   Burnett, Barrington G ^b   more..

^a Centre Hospitalier Universitaire du Point G   (Mali)

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

^c University of Sao Polo   (Brazil)

^d NATIONAL INSTITUTE ON AGING   (United States)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

^f NATIONAL INSTITUTE OF NURSING RESEARCH   (United States)

^g UNIVERSITY OF TOKYO   (Japan)

^h UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

ⁱ UNIVERSITY OF MICHIGAN   (United States)

^j UNIVERSITY OF SYDNEY   (Australia)

^k UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^l PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^m PSL RESEARCH UNIVERSITY   (France)

more..

Author keywords

C19orf12; Hereditary spastic paraplegia; NBIA; SPG43

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; C19ORF 12; CELLULAR DISTRIBUTION; CONSANGUINITY; ELECTRODIAGNOSIS; ENDOPLASMIC RETICULUM; EXOME; GENE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY SPASTIC PARAPLEGIA TYPE 43; HETEROLOGOUS EXPRESSION; HYDROPHOBICITY; MISSENSE MUTATION; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

MALIA;

C19ORF12; HEREDITARY SPASTIC PARAPLEGIA; NBIA; SPG43;

ADOLESCENT; AMINO ACID SEQUENCE; BRAIN; HOMOZYGOTE; HUMANS; INTRACELLULAR SPACE; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN TRANSPORT; SEQUENCE ALIGNMENT; SEQUENCE DELETION; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84884535149     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22378     Document Type: Article

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