Literature DB >> 25255738

Update from the 2013 International Neurofibromatosis Conference.

Scott R Plotkin1, Anne C Albers, Dusica Babovic-Vuksanovic, Jaishri O Blakeley, Xandra O Breakefield, Courtney M Dunn, D Gareth Evans, Michael J Fisher, Jan M Friedman, Marco Giovannini, David H Gutmann, Michel Kalamarides, Andrea I McClatchey, Ludwine Messiaen, Helen Morrison, David B Parkinson, Anat O Stemmer-Rachamimov, Catherine D Van Raamsdonk, Vincent M Riccardi, Tena Rosser, Aaron Schindeler, Miriam J Smith, David A Stevenson, Nicole J Ullrich, Thijs van der Vaart, Brian Weiss, Brigitte C Widemann, Yuan Zhu, Annette C Bakker, Alison C Lloyd.   

Abstract

Entities:  

Keywords:  NF1; NF2; SMARCB1; merlin; neurofibromatosis 1; neurofibromatosis 2; neurofibromin; preclinical models; schwannomatosis; tumor suppressor

Mesh：

Year:  2014        PMID： 25255738      PMCID： PMC4236251          DOI： 10.1002/ajmg.a.36754

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  40 in total

1.  Exercise capacity impairment in individuals with neurofibromatosis type 1.

Authors:  Juliana Ferreira de Souza; Christiano Gonçalves Araújo; Nilton Alves de Rezende; Luiz Oswaldo Carneiro Rodrigues
Journal:  Am J Med Genet A       Date:  2013-01-10       Impact factor: 2.802

2.  Prevalence of neurofibromatosis 1 in German children at elementary school enrollment.

Authors:  Marga Lammert; Jan M Friedman; Lan Kluwe; Victor F Mautner
Journal:  Arch Dermatol       Date:  2005-01

3.  Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study.

Authors:  Shruti Garg; Annukka Lehtonen; Susan M Huson; Richard Emsley; Dorothy Trump; D Gareth Evans; Jonathan Green
Journal:  Dev Med Child Neurol       Date:  2012-11-16       Impact factor: 5.449

4.  Focal amyotrophy in neurofibromatosis 2.

Authors:  R Trivedi; J Byrne; S M Huson; M Donaghy
Journal:  J Neurol Neurosurg Psychiatry       Date:  2000-08       Impact factor: 10.154

5.  Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial.

Authors:  Thijs van der Vaart; Ellen Plasschaert; André B Rietman; Marleen Renard; Rianne Oostenbrink; Annick Vogels; Marie-Claire Y de Wit; Mie-Jef Descheemaeker; Yvonne Vergouwe; Coriene E Catsman-Berrevoets; Eric Legius; Ype Elgersma; Henriëtte A Moll
Journal:  Lancet Neurol       Date:  2013-10-01       Impact factor: 44.182

6.  Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy.

Authors:  Alexander Schulz; Stephan L Baader; Michiko Niwa-Kawakita; Marie Juliane Jung; Reinhard Bauer; Cynthia Garcia; Ansgar Zoch; Stephan Schacke; Christian Hagel; Victor-Felix Mautner; C Oliver Hanemann; Xin-Peng Dun; David B Parkinson; Joachim Weis; J Michael Schröder; David H Gutmann; Marco Giovannini; Helen Morrison
Journal:  Nat Neurosci       Date:  2013-03-03       Impact factor: 24.884

7.  Peripheral muscle weakness in RASopathies.

Authors:  David A Stevenson; Shawn Allen; William E Tidyman; John C Carey; David H Viskochil; Austin Stevens; Heather Hanson; Xiaoming Sheng; Brandi A Thompson; Megumi J Okumura; Kent Reinker; Barbara Johnson; Katherine A Rauen
Journal:  Muscle Nerve       Date:  2012-09       Impact factor: 3.217

8.  Neurofibromin regulation of ERK signaling modulates GABA release and learning.

Authors:  Yijun Cui; Rui M Costa; Geoffrey G Murphy; Ype Elgersma; Yuan Zhu; David H Gutmann; Luis F Parada; Istvan Mody; Alcino J Silva
Journal:  Cell       Date:  2008-10-31       Impact factor: 41.582

9.  Meningioma progression in mice triggered by Nf2 and Cdkn2ab inactivation.

Authors:  M Peyre; A Stemmer-Rachamimov; E Clermont-Taranchon; S Quentin; N El-Taraya; C Walczak; A Volk; M Niwa-Kawakita; N Karboul; M Giovannini; M Kalamarides
Journal:  Oncogene       Date:  2012-10-08       Impact factor: 9.867

10.  Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.

Authors:  Victoria E Clark; E Zeynep Erson-Omay; Akdes Serin; Jun Yin; Justin Cotney; Koray Ozduman; Timuçin Avşar; Jie Li; Phillip B Murray; Octavian Henegariu; Saliha Yilmaz; Jennifer Moliterno Günel; Geneive Carrión-Grant; Baran Yilmaz; Conor Grady; Bahattin Tanrikulu; Mehmet Bakircioğlu; Hande Kaymakçalan; Ahmet Okay Caglayan; Leman Sencar; Emre Ceyhun; A Fatih Atik; Yaşar Bayri; Hanwen Bai; Luis E Kolb; Ryan M Hebert; S Bulent Omay; Ketu Mishra-Gorur; Murim Choi; John D Overton; Eric C Holland; Shrikant Mane; Matthew W State; Kaya Bilgüvar; Joachim M Baehring; Philip H Gutin; Joseph M Piepmeier; Alexander Vortmeyer; Cameron W Brennan; M Necmettin Pamir; Türker Kiliç; Richard P Lifton; James P Noonan; Katsuhito Yasuno; Murat Günel
Journal:  Science       Date:  2013-01-24       Impact factor: 47.728
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  7 in total

1.  Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1.

Authors:  Sandra P Toelle; Andrea Poretti; Peter Weber; Tatjana Seute; Jacoline E C Bromberg; Ianina Scheer; Eugen Boltshauser
Journal:  Cerebellum       Date:  2015-12       Impact factor: 3.847

2.  Effects of Neurod1 Expression on Mouse and Human Schwannoma Cells.

Authors:  Jennifer Kersigo; Lintao Gu; Linjing Xu; Ning Pan; Sarath Vijayakuma; Timothy Jones; Seiji B Shibata; Bernd Fritzsch; Marlan R Hansen
Journal:  Laryngoscope       Date:  2020-05-21       Impact factor: 3.325

3.  Reduced dosage of bevacizumab in treatment of vestibular schwannomas in patients with neurofibromatosis type 2.

Authors:  Said Farschtschi; Philipp Kollmann; Carsten Dalchow; Alexander Stein; Victor-Felix Mautner
Journal:  Eur Arch Otorhinolaryngol       Date:  2015-03-21       Impact factor: 2.503

Review 4.  [Eye involvement in neurofibromatosis].

Authors:  M Baier; S Pitz
Journal:  Ophthalmologe       Date:  2016-05       Impact factor: 1.059

5.  Age-related schwannomatosis with potential exosome-mediated contribution to prostate hyperplasia: a case report and mini-review.

Authors:  Bérengère Chignon-Sicard; Véronique Hofman; Daniel Chevallier; Jean-Michel Cucchi; Marius Ilié; Bérengère Dadone-Montaudié; Florence Paul; Xavier Carpentier; Hervé Quintens; Coraline Bence-Gauchiez; Didier Caselles; Jacqueline Rossant; Matthieu Durand; Roger Bertolotti
Journal:  Ther Adv Urol       Date:  2019-09-26

6.  Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach.

Authors:  Ana Moscoso; Aurélie Julien; Antoine Tanet; Angèle Consoli; Martine Pagnard; France Trevisan; Isabelle Kemlin; Diana Rodriguez; David Cohen
Journal:  Case Rep Psychiatry       Date:  2019-12-31

7.  Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population.

Authors:  Fanxuan Deng; D Gareth Evans; Miriam J Smith
Journal:  Hum Mutat       Date:  2022-04-14       Impact factor: 4.700
  7 in total

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