Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

Brain

Volumn 131, Issue 3, 2008, Pages 772-784

  Stevanin, Giovanni ^a,b,c   Azzedine, Hamid ^a,b,d   Denora, Paola ^a,b,e   Boukhris, Amir ^a,b,c,f   Tazir, Meriem ^g   Lossos, Alexander ^h   Rosa, Alberto Luis ⁱ   Lerer, Israela ^h   Hamri, Abdelmadjid ^j   Alegria, Paulo ^k   Loureiro, José ^l   Tada, Masayoshi ^m   Hannequin, Didier ^a,n   Anheim, Mathieu ^o   Goizet, Cyril ^a,b,p   Gonzalez Martinez, Victoria ^q   Le Ber, Isabelle ^a,b   Forlani, Sylvie ^a,b   Iwabuchi, Kiyoshi ^r   Meiner, Vardiela ^h   Uyanik, Goekhan ^s   Erichsen, Anne Kjersti ^t   Feki, Imed ^f   Pasquier, Florence ^u   Belarbi, Soreya ^g   Cruz, Vitor T ^l   Depienne, Christel ^a,b,c   Truchetto, Jeremy ^a,b   Garrigues, Guillaume ^q   Tallaksen, Chantal ^t   Tranchant, Christine ^o   Nishizawa, Masatoyo ^m   Vale, José ^k   Coutinho, Paula ^l   Santorelli, Filippo M ^e   Mhiri, Chokri ^f   Brice, Alexis ^a,b,c   Durr, Alexandra ^a,b,c   more..

^a INSERM   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d ANGERS UNIVERSITY HOSPITAL   (France)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f HABIB BOURGUIBA HOSPITAL   (Tunisia)

^g CHU Mustapha   (Algeria)

^h HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

ⁱ Sanatorio Allende   (Argentina)

^j Centre Hospitalo Universitaire Dr Benbadis Constantine   (Algeria)

^k HOSPITAL EGAS MONIZ   (Portugal)

^l Hospital So Sebastio   (Portugal)

^m NIIGATA UNIVERSITY   (Japan)

ⁿ ROUEN UNIVERSITY HOSPITAL   (France)

^o HÔPITAL CIVIL   (France)

^p HÔPITAL PELLEGRIN   (France)

^q GUI DE CHAULIAC HOSPITAL   (France)

^r Orient Yokohama Clinic   (Japan)

^s UNIVERSITY OF REGENSBURG   (Germany)

^t ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^u LILLE UNIVERSITY HOSPITAL   (France)

more..

Author keywords

Lower motor neuron degeneration; Mental retardation; Spastic paraplegias; SPG11; Thin corpus callosum

Indexed keywords

PROTEIN; SPATACSIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN ATROPHY; BRAIN CORTEX; BRAIN DYSFUNCTION; CEREBELLUM DISEASE; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM; DEGENERATIVE DISEASE; DISEASE DURATION; DISEASE SEVERITY; FAMILY STUDY; FOUNDER EFFECT; GAIT DISORDER; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LEG; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; MOTOR NEURON DISEASE; MUTATIONAL ANALYSIS; NEUROIMAGING; NORTH AFRICA; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PHENOTYPE; POPULATION GENETICS; PORTUGAL; PRIORITY JOURNAL; RNA SPLICING; SPASTIC PARAPLEGIA GENE 11; WASTING SYNDROME; WHITE MATTER;

EID: 39749114979     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm293     Document Type: Article

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