Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism

Bone

Volumn 51, Issue 6, 2012, Pages 1016-1024

  Suoranta, Sanna ^a   Manninen, Hannu ^a,b   Koskenkorva, Päivi ^a   Könönen, Mervi ^a   Laitinen, Rita ^a   Lehesjoki, Anna Elina ^c,d   Kälviäinen, Reetta ^a,b   Vanninen, Ritva ^a,b  

^a KUOPIO UNIVERSITY HOSPITAL   (Finland)

^b UNIVERSITY OF EASTERN FINLAND   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

Author keywords

Bone abnormalities; Cathepsin K; Cystatin B; EPM1; Progressive myoclonic epilepsy; Unverricht Lundborg disease

Indexed keywords

CLOBAZAM; CLONAZEPAM; CYSTATIN B; ETIRACETAM; LAMOTRIGINE; PHENOBARBITAL; PHENYTOIN; PIRACETAM; TOPIRAMATE; VALPROIC ACID;

ADOLESCENT; ADULT; AGED; ARACHNODACTYLY; ARTICLE; BONE METABOLISM; BONE RADIOGRAPHY; CHILD; CONTROLLED STUDY; FEMALE; FOOT DISEASE; GROUPS BY AGE; HUMAN; IMAGE ANALYSIS; IMAGE RECONSTRUCTION; LUMBAR SPINE; MAJOR CLINICAL STUDY; MALE; MYOCLONUS EPILEPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; PARANASAL SINUS DISEASE; PROTEIN FUNCTION; SCHOOL CHILD; SCOLIOSIS; SKULL DEFECT; SPINE DISEASE; THORAX DISEASE; THREE DIMENSIONAL IMAGING;

ADOLESCENT; ADULT; AGED; CHILD; CYSTATIN B; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; SCOLIOSIS; SKULL; UNVERRICHT-LUNDBORG SYNDROME; YOUNG ADULT;

EID: 84867193822     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2012.08.123     Document Type: Article

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