[HTML][HTML] Hereditary inclusion body myopathy: a decade of progress
M Huizing, DM Krasnewich - … et Biophysica Acta (BBA)-Molecular Basis of …, 2009 - Elsevier
Hereditary Inclusion Body Myopathy (HIBM) is an autosomal recessive, quadriceps sparing
type commonly referred to as HIBM but also termed h-IBM or Inclusion Body Myopathy 2 …
type commonly referred to as HIBM but also termed h-IBM or Inclusion Body Myopathy 2 …
Update on the genetics of the idiopathic inflammatory myopathies
A number of lines of investigation suggest that, as is likely the case for other autoimmune
diseases, the idiopathic inflammatory myopathies (IIM) develop as a result of specific …
diseases, the idiopathic inflammatory myopathies (IIM) develop as a result of specific …
Neurologic aspects of inflammatory bowel disease
A Lossos, Y River, A Eliakim, I Steiner - Neurology, 1995 - AAN Enterprises
Article abstract-To determine the frequency, spectrum, and clinical features of neurologic
disorders associated with ulcerative colitis (UC) and Crohn's disease (CD). Background …
disorders associated with ulcerative colitis (UC) and Crohn's disease (CD). Background …
Clinical delineation and localization to chromosome 9p13. 3–p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of …
MJ Kovach, B Waggoner, SM Leal, D Gelber… - Molecular genetics and …, 2001 - Elsevier
Autosomal dominant myopathy, Paget disease of bone, and dementia constitute a unique
disorder (MIM 605382). Here we describe the clinical, biochemical, radiological, and …
disorder (MIM 605382). Here we describe the clinical, biochemical, radiological, and …
Tibial muscular dystrophy: late adult-onset distal myopathy in 66 Finnish patients
B Udd, J Partanen, P Halonen, B Falck… - Archives of …, 1993 - jamanetwork.com
• Objective.—To clarify the classification of two previously reported groups of patients with
anterior tibial distal dystrophy, to find additional patients with the disease, and to describe …
anterior tibial distal dystrophy, to find additional patients with the disease, and to describe …
Light and electron microscopic localization of beta-amyloid protein in muscle biopsies of patients with inclusion-body myositis.
V Askanas, WK Engel, RB Alvarez - The American journal of …, 1992 - ncbi.nlm.nih.gov
In 11 of 11 inclusion-body myositis (IBM) patients, including one hereditary case, vacuolated
muscle fibers contained large and multiple small inclusions immunoreactive for beta …
muscle fibers contained large and multiple small inclusions immunoreactive for beta …
β‐Amyloid precursor epitopes in muscle fibers of inclusion body myositis
V Askanas, RB Alvarez… - Annals of Neurology …, 1993 - Wiley Online Library
Sporadic inclusion body myositis (IBM) and hereditary inclusion body myopathy (hIBM) are
severe and progressive muscle diseases, characterized pathologically by vacuolated …
severe and progressive muscle diseases, characterized pathologically by vacuolated …
Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
T Kayashima, H Matsuo, A Satoh, T Ohta… - Journal of human …, 2002 - nature.com
This is the first report on mutations of the UDP-N-acetylglucosamine-2-epimerase/N-
acetylmannosamine kinase gene (GNE) in Nonaka myopathy or distal myopathy with …
acetylmannosamine kinase gene (GNE) in Nonaka myopathy or distal myopathy with …
Twisted tubulofilaments of inclusion body myositis muscle resemble paired helical filaments of Alzheimer brain and contain hyperphosphorylated tau.
V Askanas, WK Engel, M Bilak, RB Alvarez… - The American journal …, 1994 - ncbi.nlm.nih.gov
We immunostained muscle biopsies of 8 patients with sporadic inclusion body myositis (S-
IBM), 7 patients with autosomal recessive hereditary inclusion body myopathy (H-IBM)(both …
IBM), 7 patients with autosomal recessive hereditary inclusion body myopathy (H-IBM)(both …
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients
FM Santorelli, M Sciacco, K Tanji, S Shanske… - Annals of …, 1996 - Wiley Online Library
Inclusion body myositis, a chronic inflammatory disorder, is the most common cause of
myopathy in adults over the age of 50. Diagnosis is based on clinical features and distinctive …
myopathy in adults over the age of 50. Diagnosis is based on clinical features and distinctive …