Literature DB >> 32071943

Very Late-Onset Niemann Pick Type C Disease: Example of Progressive Supranuclear Palsy Look-Alike Disorder.

Nikola Kresojević1, Gorana Mandić-Stojmenović1,2, Valerija Dobričić1, Igor Petrović1,2, Leposava Brajković3, Elka Stefanova1,2, Marina Svetel1,2, Vladimir Kostić1,2.   

Abstract

Entities:  

Keywords:  Niemann Pick type C; PSP; parkinsonism

Year:  2020        PMID： 32071943      PMCID： PMC7011656          DOI： 10.1002/mdc3.12892

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


× No keyword cloud information.
  12 in total

1.  Pearls & Oy-sters: Niemann-Pick disease type C in a 65-year-old patient.

Authors:  Niraj Kumar; Philippe Rizek; Yahia Mohammad; Mandar Jog
Journal:  Neurology       Date:  2016-08-23       Impact factor: 9.910

Review 2.  The adult form of Niemann-Pick disease type C.

Authors:  Mathieu Sévin; Gaëtan Lesca; Nicole Baumann; Gilles Millat; Olivier Lyon-Caen; Marie T Vanier; Frédéric Sedel
Journal:  Brain       Date:  2006-09-26       Impact factor: 13.501

3.  Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

Authors:  F A Wijburg; F Sedel; M Pineda; C J Hendriksz; M Fahey; M Walterfang; M C Patterson; J E Wraith; S A Kolb
Journal:  Neurology       Date:  2012-04-18       Impact factor: 9.910

4.  "Atypical" atypical parkinsonism: Critical appraisal of a cohort.

Authors:  Stephanie T Hirschbichler; Roberto Erro; Christos Ganos; Maria Stamelou; Amit Batla; Bettina Balint; Kailash P Bhatia
Journal:  Parkinsonism Relat Disord       Date:  2016-12-14       Impact factor: 4.891

5.  TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea.

Authors:  Gabor G Kovacs; Jill R Murrell; Sandor Horvath; Laszlo Haraszti; Katalin Majtenyi; Maria J Molnar; Herbert Budka; Bernardino Ghetti; Salvatore Spina
Journal:  Mov Disord       Date:  2009-09-15       Impact factor: 10.338

Review 6.  Parkinsonian syndrome in familial frontotemporal dementia.

Authors:  Joanna Siuda; Shinsuke Fujioka; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2014-06-13       Impact factor: 4.891

7.  Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria.

Authors:  Günter U Höglinger; Gesine Respondek; Maria Stamelou; Carolin Kurz; Keith A Josephs; Anthony E Lang; Brit Mollenhauer; Ulrich Müller; Christer Nilsson; Jennifer L Whitwell; Thomas Arzberger; Elisabet Englund; Ellen Gelpi; Armin Giese; David J Irwin; Wassilios G Meissner; Alexander Pantelyat; Alex Rajput; John C van Swieten; Claire Troakes; Angelo Antonini; Kailash P Bhatia; Yvette Bordelon; Yaroslau Compta; Jean-Christophe Corvol; Carlo Colosimo; Dennis W Dickson; Richard Dodel; Leslie Ferguson; Murray Grossman; Jan Kassubek; Florian Krismer; Johannes Levin; Stefan Lorenzl; Huw R Morris; Peter Nestor; Wolfgang H Oertel; Werner Poewe; Gil Rabinovici; James B Rowe; Gerard D Schellenberg; Klaus Seppi; Thilo van Eimeren; Gregor K Wenning; Adam L Boxer; Lawrence I Golbe; Irene Litvan
Journal:  Mov Disord       Date:  2017-05-03       Impact factor: 10.338

8.  Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

Authors:  Janine Reunert; Manfred Fobker; Frank Kannenberg; Ingrid Du Chesne; Maria Plate; Judith Wellhausen; Stephan Rust; Thorsten Marquardt
Journal:  EBioMedicine       Date:  2015-12-22       Impact factor: 8.143

Review 9.  Consensus clinical management guidelines for Niemann-Pick disease type C.

Authors:  Tarekegn Geberhiwot; Alessandro Moro; Andrea Dardis; Uma Ramaswami; Sandra Sirrs; Mercedes Pineda Marfa; Marie T Vanier; Mark Walterfang; Shaun Bolton; Charlotte Dawson; Bénédicte Héron; Miriam Stampfer; Jackie Imrie; Christian Hendriksz; Paul Gissen; Ellen Crushell; Maria J Coll; Yann Nadjar; Hans Klünemann; Eugen Mengel; Martin Hrebicek; Simon A Jones; Daniel Ory; Bruno Bembi; Marc Patterson
Journal:  Orphanet J Rare Dis       Date:  2018-04-06       Impact factor: 4.123

10.  C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.

Authors:  Davina J Hensman Moss; Mark Poulter; Jon Beck; Jason Hehir; James M Polke; Tracy Campbell; Garry Adamson; Ese Mudanohwo; Peter McColgan; Andrea Haworth; Edward J Wild; Mary G Sweeney; Henry Houlden; Simon Mead; Sarah J Tabrizi
Journal:  Neurology       Date:  2013-12-20       Impact factor: 9.910
View more
  2 in total

1.  Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life.

Authors:  Melanie Wu; Rita Ceponiene; Ece Bayram; Irene Litvan
Journal:  Mov Disord Clin Pract       Date:  2020-09-18

2.  Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.

Authors:  Nikola Kresojević; Valerija Dobričić; Milica Ječmenica Lukić; Aleksandra Tomić; Igor Petrović; Nataša Dragašević; Ivana Perović; Ana Marjanović; Marija Branković; Milena Janković; Ivana Novaković; Marina Svetel; Vladimir S Kostić
Journal:  J Neurol       Date:  2022-01-07       Impact factor: 4.849
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.