| 1 | Inclusion body myopathy with Paget disease of bone an d frontotemporal dementia linked to VCP p.Arg155Cys in a Korean family. (21320982) | Kim E.J.... Kim S. | 2011 | VCP |
| 2 | Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy. (20410287) | Ju J.S.... Weihl C.C. | 2010 | VCP |
| 3 | Hereditary inclusion body myopathy: single patient re sponse to GNE gene Lipoplex therapy. (20440751) | Nemunaitis G.... Nemunaitis J. | 2010 | GNE |
| 4 | Clinical features, lectin staining, and a novel GNE f rameshift mutation in hereditary inclusion body myopathy. (20175955) | Voermans N.C.... Lefeber D.J. | 2010 | GNE |
| 5 | Novel missense mutation p.A310P in the GNE gene in au tosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimme d vacuoles in an Italian family. (20346669) | Stober A.... Krause S. | 2010 | GNE |
| 6 | Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. (19828315) | Vesa J.... Kimonis V.E. | 2009 | VCP |
| 7 | Hereditary inclusion-body myopathy: clues on pathogen esis and possible therapy. (19618441) | Broccolini A.... Mirabella M. | 2009 | GNE |
| 8 | A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia. (19208399) | Djamshidian A.... Zimprich A. | 2009 | VCP |
| 9 | Hereditary inclusion body myopathy-linked p97/VCP mut ations in the NH2 domain and the D1 ring modulate p97/VCP ATPase activity and D 2 ring conformation. (19506019) | Halawani D.... Latterich M. | 2009 | VCP |
| 10 | Hereditary Inclusion Body Myopathy (HIBM2). (20054407) | Jay C.M.... Nemunaitis J. | 2009 | GNE |
| 11 | Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle. (18182043) | Broccolini A.... Mirabella M. | 2008 | MME |
| 12 | An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene. (17763460) | Gidaro T.... Mirabella M. | 2008 | VCP |
| 13 | TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia. (18796596) | Weihl C.C.... Pestronk A. | 2008 | VCP, TARDBP |
| 14 | Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling. (18341608) | Viassolo V.... Di Maria E. | 2008 | VCP |
| 15 | Preclinical Assessment of wt GNE Gene Plasmid for Man agement of Hereditary Inclusion Body Myopathy 2 (HIBM2). (19787087) | Jay C.... Maples P.B. | 2008 | DAG1, GNE |
| 16 | The hereditary inclusion body myopathy enigma and its future therapy. (19019317) | Argov Z.... Mitrani-Rosenbaum S. | 2008 | GNE |
| 17 | Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy. (17457594) | Guinto J.B.... Forman M.S. | 2007 | VCP, RPS27A |
| 18 | Hereditary inclusion body myopathy with a novel mutat ion in the GNE gene associated with proximal leg weakness and necrotizing myopa thy. (17718674) | Motozaki Y.... Yamada M. | 2007 | GNE |
| 19 | Novel VCP mutations in inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia. (17935506) | Watts G.D.... Kimonis V.E. | 2007 | SNCA, VCP |
| 20 | Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events. (17673919) | Amsili S.... Mitrani-Rosenbaum S. | 2007 | GNE |
| 21 | Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. (17261181) | Sparks S.... Gahl W.A. | 2007 | GNE |
| 22 | A Gne knockout mouse expressing human V572L mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. (17164266) | Malicdan M.C.... Nishino I. | 2007 | GNE |
| 23 | A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. (17704511) | Malicdan M.C.... Nishino I. | 2007 | GNE |
| 24 | A case of hereditary inclusion body myopathy: 1 patient, 2 novel mutations. (19078806) | Fisher J.... Simmons Z. | 2006 | GNE |
| 25 | NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations. (16534119) | Ricci E.... Mirabella M. | 2006 | NCAM1, GNE |
| 26 | Inclusion body myopathy-associated mutations in p97/VCP impair endoplasmic reticulum-associated degradation. (16321991) | Weihl C.C.... Hanson P.I. | 2006 | VCP, DNAH8 |
| 27 | No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. (15670773) | Salama I.... Mitrani-Rosenbaum S. | 2005 | GNE |
| 28 | Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy. (15676110) | Nonaka I.... Nishino I. | 2005 | GNE |
| 29 | Allelic heterogeneity of GNE gene mutation in two Tunisian families with autosomal recessive inclusion body myopathy. (15833430) | Amouri R.... Hentati F. | 2005 | GNE |
| 30 | Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. (16317258) | Kimonis V.E.... Watts G.D. | 2005 | VCP |
| 31 | alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy. (15694140) | Broccolini A.... Mirabella M. | 2005 | DAG1, GNE |
| 32 | Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy. (16112887) | Gottlieb E.... Huizing M. | 2005 | DAG1 |
| 33 | Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy. (15987957) | Sparks S.E.... Huizing M. | 2005 | ATP7A, GNE, RENBP |
| 34 | Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. (16247064) | Haubenberger D.... Zimprich A. | 2005 | VCP |
| 35 | Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. (15146476) | Broccolini A.... Mirabella M. | 2004 | GNE |
| 36 | The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy. (15147877) | Hinderlich S.... Mitrani-Rosenbaum S. | 2004 | GNE |
| 37 | Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. (12743242) | Argov Z.... Mitrani-Rosenbaum S. | 2003 | GNE |
| 38 | Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. (12497639) | Eisenberg I.... Mitrani-Rosenbaum S. | 2003 | GNE |
| 39 | Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review. (12450772) | Darvish D. | 2003 | GNE |
| 40 | A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. (14678807) | Krause S.... Lochmuller H. | 2003 | GNE |
| 41 | Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737). (12409274) | Darvish D.... Huo Y. | 2002 | GNE |
| 42 | 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. (11749051) | Kovach M.J.... Kimonis V.E. | 2001 | GNE |
| 43 | Muscular dystrophy in adult and aged anti-NGF transgenic mice resembles an inclusion body myopathy. (10679795) | Capsoni S.... Cattaneo A. | 2000 | NGF |
| 44 | Familial inclusion body myopathy with desmin storage. (10334489) | FidziaA8ska A.... KamiA8ska A.M. | 1999 | DES |
| 45 | Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. (10205275) | Martinsson T.... Wahlstrom J. | 1999 | IBM3 |
| 46 | Light and electron microscopic immunolocalization of presenilin 1 in abnormal muscle fibers of patients with sporadic inclusion-body myositis and autosomal-recessive inclusion-body myopathy. (9546349) | Askanas V.... Wisniewski T. | 1998 | APP, PSEN1 |
| 47 | Hereditary inclusion body myopathy maps to chromosome 9p1-q1. (8789455) | Mitrani-Rosenbaum S.... Seidman J.G. | 1996 | GNE |
| 48 | Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy. (7654077) | Sivakumar K.... Goldfarb L.G. | 1995 | APP |
| 49 | Inclusion Body Myopathy with Pa get Disease of Bone and/or Frontotemporal Dementia (20301649) | Kimonis V.... Watts G. | 1993 | VCP |
| 50 | Inclusion Body Myopathy 2 (20301439) | Oa89Ferrall E.... Sinnreich M. | 1993 | GNE |
