A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron disease

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volumn 15, Issue 1-2, 2014, Pages 138-140

  Saracchi, Enrico ^a   Castelli, Marianna ^b   Bassi, Maria T ^b   Brighina, Erika ^b   Cereda, Diletta ^a   Marzorati, Laura ^a   Patassini, Mirko ^a   Appollonio, Ildebrando ^a   Ferrarese, Carlo ^a   Brighina, Laura ^a  

^a SAN GERARDO HOSPITAL   (Italy)

^b SCIENTIFIC INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; PROTEIN; SETX PROTEIN; UNCLASSIFIED DRUG;

ADULT; ALPHA FETOPROTEIN BLOOD LEVEL; ARTICLE; BLOOD EXAMINATION; CASE REPORT; CEREBROSPINAL FLUID EXAMINATION; CHOREA; CLINICAL EVALUATION; CLINICAL EXAMINATION; DISEASE ASSOCIATION; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; MOTOR NEURON DISEASE; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; TENDON REFLEX;

ATROPHY; CEREBELLUM; CHOREA; DNA MUTATIONAL ANALYSIS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION; RNA HELICASES; SPINAL CORD;

EID: 84895560140     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2013.865751     Document Type: Article

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