Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression

Amyotrophic Lateral Sclerosis

Volumn 12, Issue 3, 2011, Pages 228-230

  Avemaria, Francesca ^a   Lunetta, Christian ^b   Tarlarini, Claudia ^a   Mosca, Lorena ^a   Maestri, Eleonora ^b   Marocchi, Alessandro ^a   Melazzini, Mario ^b   Penco, Silvana ^a   Corbo, Massimo ^b  

^a Medical Genetics ^*  (Italy)

^b OSPEDALE NIGUARDA CA GRANDA   (Italy)

Author keywords

Amyotrophic lateral sclerosis; familial; Italian; senataxin

Indexed keywords

IMMUNOGLOBULIN; PROTEIN SENATAXIN; RECQ HELICASE; UNCLASSIFIED DRUG;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; DRUG MEGADOSE; ELECTROMYOGRAM; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LABORATORY TEST; MALE; MISSENSE MUTATION; MOTOR NEUROPATHY; MOTOR UNIT POTENTIAL; NERVE CONDUCTION; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; WALKING DIFFICULTY;

AGE OF ONSET; AMYOTROPHIC LATERAL SCLEROSIS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; RNA HELICASES; YOUNG ADULT;

EID: 79955786491     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482968.2011.566930     Document Type: Article

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