Literature DB >> 27312024

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.

Teresinha Evangelista1, Conrad C Weihl2, Virginia Kimonis3, Hanns Lochmüller4.   

Abstract

Entities:  

Mesh：

Year:  2016        PMID： 27312024      PMCID： PMC5967615          DOI： 10.1016/j.nmd.2016.05.017

Source DB:  PubMed          Journal:  Neuromuscul Disord        ISSN： 0960-8966            Impact factor:   4.296


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  95 in total

1.  Two Australian families with inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia: novel clinical and genetic findings.

Authors:  Kishore R Kumar; Merrilee Needham; Kym Mina; Mark Davis; Janice Brewer; Christopher Staples; Karl Ng; Carolyn M Sue; Frank L Mastaglia
Journal:  Neuromuscul Disord       Date:  2010-03-23       Impact factor: 4.296

2.  A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

Authors:  Kornelia Neveling; Ilse Feenstra; Christian Gilissen; Lies H Hoefsloot; Erik-Jan Kamsteeg; Arjen R Mensenkamp; Richard J T Rodenburg; Helger G Yntema; Liesbeth Spruijt; Sascha Vermeer; Tuula Rinne; Koen L van Gassen; Danielle Bodmer; Dorien Lugtenberg; Rick de Reuver; Wendy Buijsman; Ronny C Derks; Nienke Wieskamp; Bert van den Heuvel; Marjolijn J L Ligtenberg; Hannie Kremer; David A Koolen; Bart P C van de Warrenburg; Frans P M Cremers; Carlo L M Marcelis; Jan A M Smeitink; Saskia B Wortmann; Wendy A G van Zelst-Stams; Joris A Veltman; Han G Brunner; Hans Scheffer; Marcel R Nelen
Journal:  Hum Mutat       Date:  2013-10-18       Impact factor: 4.878

3.  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.

Authors:  M J Kovach; B Waggoner; S M Leal; D Gelber; R Khardori; M A Levenstien; C A Shanks; G Gregg; M T Al-Lozi; T Miller; W Rakowicz; G Lopate; J Florence; G Glosser; Z Simmons; J C Morris; M P Whyte; A Pestronk; V E Kimonis
Journal:  Mol Genet Metab       Date:  2001-12       Impact factor: 4.797

4.  Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone.

Authors:  Sara K Custer; Manuela Neumann; Hongbo Lu; Alexander C Wright; J Paul Taylor
Journal:  Hum Mol Genet       Date:  2010-02-10       Impact factor: 6.150

5.  Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations.

Authors:  Danilo Ritz; Maja Vuk; Philipp Kirchner; Monika Bug; Sabina Schütz; Arnold Hayer; Sebastian Bremer; Caleb Lusk; Robert H Baloh; Houkeun Lee; Timo Glatter; Matthias Gstaiger; Ruedi Aebersold; Conrad C Weihl; Hemmo Meyer
Journal:  Nat Cell Biol       Date:  2011-08-07       Impact factor: 28.824

6.  mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy.

Authors:  James K Ching; Sarita V Elizabeth; Jeong-Sun Ju; Caleb Lusk; Sara K Pittman; Conrad C Weihl
Journal:  Hum Mol Genet       Date:  2012-12-18       Impact factor: 6.150

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.  Treatment with arimoclomol, a coinducer of heat shock proteins, delays disease progression in ALS mice.

Authors:  Dairin Kieran; Bernadett Kalmar; James R T Dick; Joanna Riddoch-Contreras; Geoffrey Burnstock; Linda Greensmith
Journal:  Nat Med       Date:  2004-03-21       Impact factor: 53.440

9.  Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Authors:  Kevin P Kenna; Russell L McLaughlin; Susan Byrne; Marwa Elamin; Mark Heverin; Elaine M Kenny; Paul Cormican; Derek W Morris; Colette G Donaghy; Daniel G Bradley; Orla Hardiman
Journal:  J Med Genet       Date:  2013-07-23       Impact factor: 6.318

Review 10.  Clinical presentation of Paget's disease: evaluation of a contemporary cohort and systematic review.

Authors:  Adrian Tan; Stuart H Ralston
Journal:  Calcif Tissue Int       Date:  2014-08-27       Impact factor: 4.333
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  10 in total

1.  A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy.

Authors:  Alyaa Shmara; Mari Perez-Rosendahl; Kady Murphy; Ashley Kwon; Charles Smith; Virginia Kimonis
Journal:  Orphanet J Rare Dis       Date:  2022-07-15       Impact factor: 4.303

2.  The multifaceted clinical presentation of VCP-proteinopathy in a Greek family.

Authors:  George K Papadimas; George P Paraskevas; Thomas Zambelis; Chrisostomos Karagiaouris; Mara Bourbouli; Anastasia Bougea; Maggie C Walter; Nicolas U Schumacher; Sabine Krause; Elisabeth Kapaki
Journal:  Acta Myol       Date:  2017-12-01

3.  Exploiting conformational plasticity in the AAA+ protein VCP/p97 to modify function.

Authors:  Anne Kathrin Schütz; Enrico Rennella; Lewis E Kay
Journal:  Proc Natl Acad Sci U S A       Date:  2017-07-31       Impact factor: 11.205

4.  Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.

Authors:  Shu-Yan Feng; Han Lin; Chun-Hui Che; Hua-Pin Huang; Chang-Yun Liu; Zhang-Yu Zou
Journal:  Front Neurol       Date:  2022-02-07       Impact factor: 4.003

Review 5.  Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy.

Authors:  Manisha Korb; Allison Peck; Lindsay N Alfano; Kenneth I Berger; Meredith K James; Nupur Ghoshal; Elise Healzer; Claire Henchcliffe; Shaida Khan; Pradeep P A Mammen; Sujata Patel; Gerald Pfeffer; Stuart H Ralston; Bhaskar Roy; William W Seeley; Andrea Swenson; Tahseen Mozaffar; Conrad Weihl; Virginia Kimonis
Journal:  Orphanet J Rare Dis       Date:  2022-01-29       Impact factor: 4.123

Review 6.  The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).

Authors:  Michelle A Johnson; Jacob A Klickstein; Richa Khanna; Yunzi Gou; Malavika Raman
Journal:  Neurobiol Dis       Date:  2022-04-08       Impact factor: 7.046

7.  A Dynamic molecular basis for malfunction in disease mutants of p97/VCP.

Authors:  Anne K Schuetz; Lewis E Kay
Journal:  Elife       Date:  2016-11-09       Impact factor: 8.140

8.  Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy.

Authors:  Michio Inoue; Aritoshi Iida; Shinichiro Hayashi; Madoka Mori-Yoshimura; Atsushi Nagaoka; Shunsuke Yoshimura; Hirokazu Shiraishi; Akira Tsujino; Yuji Takahashi; Ikuya Nonaka; Yukiko K Hayashi; Satoru Noguchi; Ichizo Nishino
Journal:  Hum Genome Var       Date:  2018-05-30

9.  Phenotypic diversity in an international Cure VCP Disease registry.

Authors:  Chiseko Ikenaga; Andrew R Findlay; Michelle Seiffert; Allison Peck; Nathan Peck; Nicholas E Johnson; Jeffrey M Statland; Conrad C Weihl
Journal:  Orphanet J Rare Dis       Date:  2020-09-29       Impact factor: 4.123

Review 10.  The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.

Authors:  Eveljn Scarian; Giuseppe Fiamingo; Luca Diamanti; Ilaria Palmieri; Stella Gagliardi; Orietta Pansarasa
Journal:  Front Neurol       Date:  2022-02-22       Impact factor: 4.003
  10 in total

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