Spastic paraplegia with thin corpus callosum: Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

Neurogenetics

Volumn 7, Issue 3, 2006, Pages 149-156

  Stevanin, Giovanni ^a   Montagna, Giorgia ^b   Azzedine, Hamid ^a   Valente, Enza Maria ^c   Durr, Alexandra ^a   Scarano, Valentina ^d   Bouslam, Naima ^a   Cassandrini, Denise ^e   Denora, Paola S ^b   Criscuolo, Chiara ^d   Belarbi, Soraya ^f   Orlacchio, Antonio ^g,h   Jonveaux, Philippe ⁱ   Silvestri, Gabriella ^j   Hernandez, Anne Marie Ouvrad ^k   De Michele, Giuseppe ^d   Tazir, Meriem ^f   Mariotti, Caterina ^l   Brockmann, Knut ^m   Malandrini, Alessandro ⁿ   Van Der Knapp, Marjo S ^o   Neri, Marcella ^p   Tonekaboni, Hassan ^a   Melone, Mariarosa A B ^q   Tessa, Alessandra ^b   Dotti, M Teresa ⁿ   Tosetti, Michela ^r   Pauri, Flavia ^s   Federico, Antonio ⁿ   Casali, Carlo ^s,t   Cruz, Vitor T ^u   Loureiro, José L ^u,v   Zara, Federico ^e   Forlani, Sylvie ^a   Bertini, Enrico ^b   Coutinho, Paula ^u,v   Filla, Alessandro ^d   Brice, Alexis ^a   Santorelli, Filippo M ^b   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e G GASLINI INSTITUTE   (Italy)

^f CHU Mustapha   (Algeria)

^g IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^h UNIVERSITY OF ROME TOR VERGATA   (Italy)

ⁱ UNIVERSITY HOSPITAL OF NANCY   (France)

^j CATHOLIC UNIVERSITY   (Italy)

^k GRENOBLE UNIVERSITY HOSPITAL   (France)

^l DEPARTMENT OF NEUROSURGERY   (Italy)

^m UNIVERSITY OF GÖTTINGEN   (Germany)

ⁿ UNIVERSITY OF SIENA   (Italy)

^o VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^p UNIVERSITY OF FERRARA   (Italy)

^q SECOND UNIVERSITY OF NAPLES   (Italy)

^r DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^s SAPIENZA UNIVERSITY OF ROME   (Italy)

^t C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^u Hospital So Sebastio   (Portugal)

^v UNIVERSITY OF PORTO   (Portugal)

more..

Author keywords

Autosomal recessive hereditary spastic paraplegia; Genetic heterogeneity; Linkage; SPG11; Thin corpus callosum

Indexed keywords

MICROTUBULE ASSOCIATED PROTEIN 1; PROTEIN; PROTEIN SEMA6D; PROTEIN SPG11; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALGERIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 15Q; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CORPUS CALLOSUM; FEMALE; FRANCE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETICS; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; ITALY; MALE; PORTUGAL; PRIORITY JOURNAL; SOUTHERN EUROPE; STATISTICAL SIGNIFICANCE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; CONSANGUINITY; CORPUS CALLOSUM; FEMALE; GENES, RECESSIVE; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMANS; INFANT; LINKAGE (GENETICS); LOD SCORE; MALE; PEDIGREE; PHENOTYPE; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 33746054137     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-006-0044-2     Document Type: Article

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