Literature DB >> 30713944

Moving Beyond Syndromic Classifications in Neurodegenerative Disease: The Example of PLA2G6.

Matthis Synofzik1,2, Thomas Gasser1,2.   

Abstract

Entities:  

Year:  2016        PMID： 30713944      PMCID： PMC6353490          DOI： 10.1002/mdc3.12441

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


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  10 in total

1.  PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

Authors:  Matthis Synofzik; Michael A Gonzalez; Charles Marques Lourenco; Marie Coutelier; Tobias B Haack; Adriana Rebelo; Didier Hannequin; Tim M Strom; Holger Prokisch; Christoph Kernstock; Alexandra Durr; Ludger Schöls; Marcos M Lima-Martínez; Amjad Farooq; Rebecca Schüle; Giovanni Stevanin; Wilson Marques; Stephan Züchner
Journal:  Brain       Date:  2013-12-19       Impact factor: 13.501

2.  An overview of inborn errors of complex lipid biosynthesis and remodelling.

Authors:  Foudil Lamari; Fanny Mochel; Jean-Marie Saudubray
Journal:  J Inherit Metab Dis       Date:  2014-09-20       Impact factor: 4.982

3.  Characterizing POLG ataxia: clinics, electrophysiology and imaging.

Authors:  Matthis Synofzik; Karin Srulijes; Jana Godau; Daniela Berg; Ludger Schöls
Journal:  Cerebellum       Date:  2012-12       Impact factor: 3.847

4.  Phenotypic variability in familial prion diseases due to the D178N mutation.

Authors:  J J Zarranz; A Digon; B Atarés; A B Rodríguez-Martínez; A Arce; N Carrera; I Fernández-Manchola; M Fernández-Martínez; C Fernández-Maiztegui; I Forcadas; L Galdos; J C Gómez-Esteban; A Ibáñez; E Lezcano; A López de Munain; J F Martí-Massó; M M Mendibe; M Urtasun; J M Uterga; N Saracibar; F Velasco; M M de Pancorbo
Journal:  J Neurol Neurosurg Psychiatry       Date:  2005-11       Impact factor: 10.154

5.  Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

Authors:  Torunn Fiskerstrand; Dorra H'mida-Ben Brahim; Stefan Johansson; Abderrahim M'zahem; Bjørn Ivar Haukanes; Nathalie Drouot; Julian Zimmermann; Andrew J Cole; Christian Vedeler; Cecilie Bredrup; Mirna Assoum; Meriem Tazir; Thomas Klockgether; Abdelmadjid Hamri; Vidar M Steen; Helge Boman; Laurence A Bindoff; Michel Koenig; Per M Knappskog
Journal:  Am J Hum Genet       Date:  2010-09-10       Impact factor: 11.025

6.  Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.

Authors:  A Kemal Topaloglu; Alejandro Lomniczi; Doris Kretzschmar; Gregory A Dissen; L Damla Kotan; Craig A McArdle; A Filiz Koc; Ben C Hamel; Metin Guclu; Esra D Papatya; Erdal Eren; Eda Mengen; Fatih Gurbuz; Mandy Cook; Juan M Castellano; M Burcu Kekil; Neslihan O Mungan; Bilgin Yuksel; Sergio R Ojeda
Journal:  J Clin Endocrinol Metab       Date:  2014-07-17       Impact factor: 5.958

7.  Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

Authors:  Janneke H M Schuurs-Hoeijmakers; Michael T Geraghty; Erik-Jan Kamsteeg; Salma Ben-Salem; Susanne T de Bot; Bonnie Nijhof; Ilse I G M van de Vondervoort; Marinette van der Graaf; Anna Castells Nobau; Irene Otte-Höller; Sascha Vermeer; Amanda C Smith; Peter Humphreys; Jeremy Schwartzentruber; Bassam R Ali; Saeed A Al-Yahyaee; Said Tariq; Thachillath Pramathan; Riad Bayoumi; Hubertus P H Kremer; Bart P van de Warrenburg; Willem M R van den Akker; Christian Gilissen; Joris A Veltman; Irene M Janssen; Anneke T Vulto-van Silfhout; Saskia van der Velde-Visser; Dirk J Lefeber; Adinda Diekstra; Corrie E Erasmus; Michèl A Willemsen; Lisenka E L M Vissers; Martin Lammens; Hans van Bokhoven; Han G Brunner; Ron A Wevers; Annette Schenck; Lihadh Al-Gazali; Bert B A de Vries; Arjan P M de Brouwer
Journal:  Am J Hum Genet       Date:  2012-11-21       Impact factor: 11.025

8.  Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Authors:  S Kmoch; J Majewski; V Ramamurthy; S Cao; S Fahiminiya; H Ren; I M MacDonald; I Lopez; V Sun; V Keser; A Khan; V Stránecký; H Hartmannová; A Přistoupilová; K Hodaňová; L Piherová; L Kuchař; A Baxová; R Chen; O G P Barsottini; A Pyle; H Griffin; M Splitt; J Sallum; J L Tolmie; J R Sampson; P Chinnery; E Banin; D Sharon; S Dutta; R Grebler; C Helfrich-Foerster; J L Pedroso; D Kretzschmar; M Cayouette; R K Koenekoop
Journal:  Nat Commun       Date:  2015-01-09       Impact factor: 14.919

9.  Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts.

Authors:  Matthis Synofzik; Rebecca Schüle; Martin Schulze; Janina Gburek-Augustat; Roland Schweizer; Anja Schirmacher; Ingeborg Krägeloh-Mann; Michael Gonzalez; Peter Young; Stephan Züchner; Ludger Schöls; Peter Bauer
Journal:  Orphanet J Rare Dis       Date:  2014-04-17       Impact factor: 4.123

10.  X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

Authors:  Matthis Synofzik; Jennifer Müller vom Hagen; Tobias B Haack; Christian Wilhelm; Tobias Lindig; Stefanie Beck-Wödl; Sander B Nabuurs; André B P van Kuilenburg; Arjan P M de Brouwer; Ludger Schöls
Journal:  Orphanet J Rare Dis       Date:  2014-02-14       Impact factor: 4.123
  10 in total
  1 in total

1.  FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Authors:  Tim W Rattay; Tobias Lindig; Jonathan Baets; Katrien Smets; Tine Deconinck; Anne S Söhn; Konstanze Hörtnagel; Kathrin N Eckstein; Sarah Wiethoff; Jennifer Reichbauer; Marion Döbler-Neumann; Ingeborg Krägeloh-Mann; Michaela Auer-Grumbach; Barbara Plecko; Alexander Münchau; Bernd Wilken; Marc Janauschek; Anne-Katrin Giese; Jan L De Bleecker; Els Ortibus; Martine Debyser; Adolfo Lopez de Munain; Aurora Pujol; Maria Teresa Bassi; Maria Grazia D'Angelo; Peter De Jonghe; Stephan Züchner; Peter Bauer; Ludger Schöls; Rebecca Schüle
Journal:  Brain       Date:  2019-06-01       Impact factor: 13.501
  1 in total

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