Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: Clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients

Clinical Neurology and Neurosurgery

Volumn 109, Issue 10, 2007, Pages 844-848

  Gamez, Josep ^a   Also, Eva ^b   Alias, Laura ^b   Corbera Bellalta, Marc ^a   Barceló, Maria J ^b   Centeno, Maria ^a   Raguer, Nuria ^a   Gratacós, Margarita ^a   Baiget, Montserrat ^b   Tizzano, Eduardo F ^b  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

Haploinsufficiency; Hirayama's disease; Monomelic amyotrophy; Motor neuron disease; OMIM 602440; SMN1; SMN2; Susceptibility modifying factor

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN;

ADULT; AFRICAN AMERICAN; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE PREDISPOSITION; FEMALE; GENE; GENE SMN 1; GENE SMN 2; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENOTYPE PHENOTYPE CORRELATION; HIRAYAMA DISEASE; HOMOZYGOSITY; HUMAN; MALE; MUSCLE ATROPHY; RISK FACTOR;

ADULT; ATROPHY; CELL SURVIVAL; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; ELECTROMYOGRAPHY; FEMALE; FOREARM; GENETIC PREDISPOSITION TO DISEASE; GENETICS, POPULATION; HAND; HAPLOTYPES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOTOR NEURON DISEASE; MOTOR NEURONS; MUSCLE WEAKNESS; MUSCULAR ATROPHY, SPINAL; NERVE TISSUE PROTEINS; NEUROLOGIC EXAMINATION; PHENOTYPE; QUANTITATIVE TRAIT, HERITABLE; RNA-BINDING PROTEINS; SPAIN; SPINAL CORD; SYNDROME;

EID: 35349022604     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2007.07.019     Document Type: Article

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