Literature DB >> 19372299

Inclusion body myopathy with Paget disease and frontotemporal dementia (IBMPFD): clinical features including sphincter disturbance in a large pedigree.

T D Miller, A P Jackson, R Barresi, C M Smart, M Eugenicos, D Summers, S Clegg, V Straub, J Stone.   

Abstract

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Year:  2009        PMID： 19372299     DOI： 10.1136/jnnp.2008.148676

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  18 in total

1.  A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.

Authors:  Jake Plewa; Abhilasha Surampalli; Marie Wencel; Merit Milad; Sandra Donkervoort; Vincent J Caiozzo; Namita Goyal; Tahseen Mozaffar; Virginia Kimonis
Journal:  Neuromuscul Disord       Date:  2018-06-27       Impact factor: 4.296

2.  A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation.

Authors:  Abhilasha Surampalli; Brian T Gold; Charles Smith; Rudy J Castellani; Manaswitha Khare; Hon Yu; Celeste Nguyen; Mary Lan; Marie Wencel; Sharon Wigal; Vince Caiozzo; Virginia Kimonis
Journal:  Neuromuscul Disord       Date:  2014-10-22       Impact factor: 4.296

3.  Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.

Authors:  E Al-Obeidi; S Al-Tahan; A Surampalli; N Goyal; A K Wang; A Hermann; M Omizo; C Smith; T Mozaffar; V Kimonis
Journal:  Clin Genet       Date:  2018-01       Impact factor: 4.438

4.  Targeted excision of VCP R155H mutation by Cre-LoxP technology as a promising therapeutic strategy for valosin-containing protein disease.

Authors:  Angèle Nalbandian; Katrina J Llewellyn; Christopher Nguyen; Edward S Monuki; Virginia E Kimonis
Journal:  Hum Gene Ther Methods       Date:  2015-02       Impact factor: 2.396

5.  Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.

Authors:  Abhilasha Surampalli; Manaswitha Khare; Georgette Kubrussi; Marie Wencel; Jasmin Tanaja; Sandra Donkervoort; Kathryn Osann; Mariella Simon; Douglas Wallace; Charles Smith; Aideen M McInerney-Leo; Virginia Kimonis
Journal:  J Genet Couns       Date:  2015-02-26       Impact factor: 2.537

Review 6.  The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

Authors:  Angèle Nalbandian; Sandra Donkervoort; Eric Dec; Mallikarjun Badadani; Veeral Katheria; Prachi Rana; Christopher Nguyen; Jogeshwar Mukherjee; Vincent Caiozzo; Barbara Martin; Giles D Watts; Jouni Vesa; Charles Smith; Virginia E Kimonis
Journal:  J Mol Neurosci       Date:  2011-09-03       Impact factor: 3.444

7.  Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.

Authors:  S G Mehta; M Khare; R Ramani; G D J Watts; M Simon; K E Osann; S Donkervoort; E Dec; A Nalbandian; J Platt; M Pasquali; A Wang; T Mozaffar; C D Smith; V E Kimonis
Journal:  Clin Genet       Date:  2012-10-04       Impact factor: 4.438

8.  Involvement of peripheral and central nervous systems in a valosin-containing protein mutation.

Authors:  Kurt Segers; Gerald Glibert; Johan Callebaut; Luc Kevers; Ibrahim Alcan; Bernard Dachy
Journal:  J Clin Neurol       Date:  2014-04-23       Impact factor: 3.077

9.  Motor neuron involvement in multisystem proteinopathy: implications for ALS.

Authors:  Michael Benatar; Joanne Wuu; Catalina Fernandez; Conrad C Weihl; Heather Katzen; Julie Steele; Bjorn Oskarsson; J Paul Taylor
Journal:  Neurology       Date:  2013-05-01       Impact factor: 9.910

10.  Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Authors:  Selina Wray; Matthew Self; Patrick A Lewis; Jan-Willem Taanman; Natalie S Ryan; Colin J Mahoney; Yuying Liang; Michael J Devine; Una-Marie Sheerin; Henry Houlden; Huw R Morris; Daniel Healy; Jose-Felix Marti-Masso; Elisavet Preza; Suzanne Barker; Margaret Sutherland; Roderick A Corriveau; Michael D'Andrea; Anthony H V Schapira; Ryan J Uitti; Mark Guttman; Grzegorz Opala; Barbara Jasinska-Myga; Andreas Puschmann; Christer Nilsson; Alberto J Espay; Jaroslaw Slawek; Ludwig Gutmann; Bradley F Boeve; Kevin Boylan; A Jon Stoessl; Owen A Ross; Nicholas J Maragakis; Jay Van Gerpen; Melissa Gerstenhaber; Katrina Gwinn; Ted M Dawson; Ole Isacson; Karen S Marder; Lorraine N Clark; Serge E Przedborski; Steven Finkbeiner; Jeffrey D Rothstein; Zbigniew K Wszolek; Martin N Rossor; John Hardy
Journal:  PLoS One       Date:  2012-08-27       Impact factor: 3.240
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