Distal spinal muscular atrophy as a major feature in adult-onset ataxia telangiectasia

Neurology

Volumn 67, Issue 2, 2006, Pages 346-349

  Hiel, J A P ^a,b   Van Engelen, B G M ^b   Weemaes, C M R ^b   Broeks, A ^c   Verrips, A ^b   Ter Laak, H ^b   Vingerhoets, H M ^b   Van Den Heuvel, L P W ^b   Lammens, M ^b   Gabreels F J M ^b   Last, J I ^d   Taylor, A M R ^d  

^a MÁXIMA MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c ANTONI VAN LEEUWENHOEK HOSPITAL   (Netherlands)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53; ATM PROTEIN; CELL CYCLE PROTEIN; DNA BINDING PROTEIN; PROTEIN SERINE THREONINE KINASE; TUMOR SUPPRESSOR PROTEIN;

ADULT; ANTERIOR HORN CELL DISEASE; ARTICLE; ATAXIA TELANGIECTASIA; CASE REPORT; DISTAL MYOPATHY; FEMALE; GENE MUTATION; HUMAN; MALE; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SPINAL MUSCULAR ATROPHY; GENETIC PREDISPOSITION; GENETICS;

ADULT; ATAXIA TELANGIECTASIA; CELL CYCLE PROTEINS; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUSCULAR ATROPHY, SPINAL; PROTEIN-SERINE-THREONINE KINASES; TUMOR SUPPRESSOR PROTEINS;

EID: 33747041392     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000224878.22821.23     Document Type: Article

References (10)

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