scholarly article | Q13442814 |
P356 | DOI | 10.1002/AJMG.10199 |
P698 | PubMed publication ID | 11891683 |
P2093 | author name string | Virginia E Kimonis | |
Brook Waggoner | |||
Dan Cai | |||
David Gelber | |||
Marc Winkelman | |||
Margaret J Kovach | |||
Romesh Khardori | |||
P2860 | cites work | Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. | Q24535825 |
Genetic linkage of Paget disease of the bone to chromosome 18q | Q24677166 | ||
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis | Q28141482 | ||
Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia | Q28212105 | ||
Making sense of the limb-girdle muscular dystrophies | Q33701932 | ||
Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. | Q34402957 | ||
Frequency and characteristics of familial aggregation of paget's disease of bone | Q45168880 | ||
Paget's disease and muscular dystrophy. Report of an unusual association in one family | Q72889614 | ||
Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone | Q73625727 | ||
Heterogeneity in Paget disease of the bone | Q73911660 | ||
P433 | issue | 3 | |
P304 | page(s) | 187-191 | |
P577 | publication date | 2002-03-01 | |
P1433 | published in | American Journal of Medical Genetics Part A | Q15755121 |
P1476 | title | Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy | |
P478 | volume | 108 |
Q41487960 | A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation |
Q57165581 | A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene |
Q44551626 | Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes |
Q24611300 | Motor neuron involvement in multisystem proteinopathy: implications for ALS |
Q34178673 | The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis. |
Q37452177 | Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia |
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