KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: Distinct phenotypes according to the nature of the mutations

European Journal of Human Genetics

Volumn 20, Issue 6, 2012, Pages 645-649

  Klebe, Stephan ^a,b,c   Lossos, Alexander ^d   Azzedine, Hamid ^a,b,c   Mundwiller, Emeline ^a,b,c   Sheffer, Ruth ^d   Gaussen, Marion ^a,b,c   Marelli, Cecilia ^b   Nawara, Magdalena ^a,b,c   Carpentier, Wassila ^b   Meyer, Vincent ^a,e   Rastetter, Agnès ^a,b,c,f   Martin, Elodie ^a,b,c,f   Bouteiller, Delphine ^a,b,c   Orlando, Laurent ^a,b,c,f   Gyapay, Gabor ^e   El Hachimi, Khalid H ^a,b,c,f   Zimmerman, Batel ^d   Gamliel, Moriya ^d   Misk, Adel ^g   Lerer, Israela ^d   Brice, Alexis ^a,b,c   Durr, Alexandra ^a,b,c   Stevanin, Giovanni ^a,b,c,f   more..

^a INSERM   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^e CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^f PSL RESEARCH UNIVERSITY   (France)

^g SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

hereditary sensory and autonomic neuropathy; Hereditary spastic paraplegia; KIF1A; motor neuron disease; next generation sequencing; SPG30

Indexed keywords

DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME 2Q; DISEASE COURSE; FAMILY STUDY; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOME; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; KIF1A GENE; MALE; MISSENSE MUTATION; MOTOR NEURON DISEASE; NEXT GENERATION SEQUENCING; ONSET AGE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; SPG30 GENE;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; FAMILY; GENES, RECESSIVE; GENETIC HETEROGENEITY; HOMOZYGOTE; HUMANS; KINESIN; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84861183934     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.261     Document Type: Article

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