Literature DB >> 24770784

Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification.

Gaël Nicolas1, Anne-Claire Richard, Cyril Pottier, Christophe Verny, Franck Durif, Emmanuel Roze, Pascal Favrole, Gabrielle Rudolf, Mathieu Anheim, Christine Tranchant, Thierry Frebourg, Dominique Campion, Didier Hannequin.   

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Year:  2014        PMID： 24770784     DOI： 10.1007/s10048-014-0404-2

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


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  9 in total

1.  A response to the letter by Oliveira et al.

Authors:  Gaël Nicolas; Olivier Guillin; Alaina Borden; Sandrine Bioux; Romain Lefaucheur; Didier Hannequin
Journal:  Gen Hosp Psychiatry       Date:  2012-12-20       Impact factor: 3.238

2.  Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.

Authors:  Megumi Yamada; Masaki Tanaka; Mari Takagi; Seiju Kobayashi; Yoshiharu Taguchi; Shutaro Takashima; Kortaro Tanaka; Tetsuo Touge; Hiroyuki Hatsuta; Shigeo Murayama; Yuichi Hayashi; Masayuki Kaneko; Hiroyuki Ishiura; Jun Mitsui; Naoki Atsuta; Gen Sobue; Nobuyuki Shimozawa; Takashi Inuzuka; Shoji Tsuji; Isao Hozumi
Journal:  Neurology       Date:  2014-01-24       Impact factor: 9.910

3.  PDGFB partial deletion: a new, rare mechanism causing brain calcification with leukoencephalopathy.

Authors:  Gaël Nicolas; Anne Rovelet-Lecrux; Cyril Pottier; Olivier Martinaud; David Wallon; Louis Vernier; Gérard Landemore; Françoise Chapon; Carol Prieto-Morin; Elisabeth Tournier-Lasserve; Thierry Frébourg; Dominique Campion; Didier Hannequin
Journal:  J Mol Neurosci       Date:  2014-03-07       Impact factor: 3.444

4.  High frequency of calcification in basal ganglia on brain computed tomography images in Japanese older adults.

Authors:  Megumi Yamada; Takahiko Asano; Kouichirou Okamoto; Yuichi Hayashi; Masayuki Kanematsu; Hiroaki Hoshi; Yasuhisa Akaiwa; Takayoshi Shimohata; Masatoyo Nishizawa; Takashi Inuzuka; Isao Hozumi
Journal:  Geriatr Gerontol Int       Date:  2012-12-21       Impact factor: 2.730

5.  Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Authors:  Sandy Chan Hsu; Renee L Sears; Roberta R Lemos; Beatriz Quintáns; Alden Huang; Elizabeth Spiteri; Lisette Nevarez; Catherine Mamah; Mayana Zatz; Kerrie D Pierce; Janice M Fullerton; John C Adair; Jon E Berner; Matthew Bower; Henry Brodaty; Olga Carmona; Valerija Dobricić; Brent L Fogel; Daniel García-Estevez; Jill Goldman; John L Goudreau; Suellen Hopfer; Milena Janković; Serge Jaumà; Joanna C Jen; Suppachok Kirdlarp; Joerg Klepper; Vladimir Kostić; Anthony E Lang; Agnès Linglart; Melissa K Maisenbacher; Bala V Manyam; Pietro Mazzoni; Zofia Miedzybrodzka; Witoon Mitarnun; Philip B Mitchell; Jennifer Mueller; Ivana Novaković; Martin Paucar; Henry Paulson; Sheila A Simpson; Per Svenningsson; Paul Tuite; Jerrold Vitek; Suppachok Wetchaphanphesat; Charles Williams; Michele Yang; Peter R Schofield; João R M de Oliveira; María-Jesús Sobrido; Daniel H Geschwind; Giovanni Coppola
Journal:  Neurogenetics       Date:  2013-01-20       Impact factor: 2.660

6.  A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

Authors:  Gaël Nicolas; Agnès Jacquin; Christel Thauvin-Robinet; Anne Rovelet-Lecrux; Olivier Rouaud; Cyril Pottier; Marie-Hélène Aubriot-Lorton; Stéphane Rousseau; David Wallon; Christian Duvillard; Yannick Béjot; Thierry Frébourg; Maurice Giroud; Dominique Campion; Didier Hannequin
Journal:  Eur J Hum Genet       Date:  2014-02-12       Impact factor: 4.246

7.  Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.

Authors:  Annika Keller; Ana Westenberger; Maria J Sobrido; Maria García-Murias; Aloysius Domingo; Renee L Sears; Roberta R Lemos; Andres Ordoñez-Ugalde; Gael Nicolas; José E Gomes da Cunha; Elisabeth J Rushing; Michael Hugelshofer; Moritz C Wurnig; Andres Kaech; Regina Reimann; Katja Lohmann; Valerija Dobričić; Angel Carracedo; Igor Petrović; Janis M Miyasaki; Irina Abakumova; Maarja Andaloussi Mäe; Elisabeth Raschperger; Mayana Zatz; Katja Zschiedrich; Jörg Klepper; Elizabeth Spiteri; Jose M Prieto; Inmaculada Navas; Michael Preuss; Carmen Dering; Milena Janković; Martin Paucar; Per Svenningsson; Kioomars Saliminejad; Hamid R K Khorshid; Ivana Novaković; Adriano Aguzzi; Andreas Boss; Isabelle Le Ber; Gilles Defer; Didier Hannequin; Vladimir S Kostić; Dominique Campion; Daniel H Geschwind; Giovanni Coppola; Christer Betsholtz; Christine Klein; Joao R M Oliveira
Journal:  Nat Genet       Date:  2013-08-04       Impact factor: 38.330

8.  Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

Authors:  Gaël Nicolas; Cyril Pottier; Camille Charbonnier; Lucie Guyant-Maréchal; Isabelle Le Ber; Jérémie Pariente; Pierre Labauge; Xavier Ayrignac; Luc Defebvre; David Maltête; Olivier Martinaud; Romain Lefaucheur; Olivier Guillin; David Wallon; Boris Chaumette; Philippe Rondepierre; Nathalie Derache; Guillaume Fromager; Stéphane Schaeffer; Pierre Krystkowiak; Christophe Verny; Snejana Jurici; Mathilde Sauvée; Marc Vérin; Thibaud Lebouvier; Olivier Rouaud; Christel Thauvin-Robinet; Stéphane Rousseau; Anne Rovelet-Lecrux; Thierry Frebourg; Dominique Campion; Didier Hannequin
Journal:  Brain       Date:  2013-09-24       Impact factor: 13.501

9.  SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.

Authors:  Matt Baker; Audrey J Strongosky; Monica Y Sanchez-Contreras; Shan Yang; Will Ferguson; Donald B Calne; Susan Calne; A Jon Stoessl; Judith E Allanson; Daniel F Broderick; Michael L Hutton; Dennis W Dickson; Owen A Ross; Zbigniew K Wszolek; Rosa Rademakers
Journal:  Neurogenetics       Date:  2013-10-18       Impact factor: 2.660
  9 in total
  9 in total

1.  Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Authors:  Eliana Marisa Ramos; Miryam Carecchio; Roberta Lemos; Joana Ferreira; Andrea Legati; Renee Louise Sears; Sandy Chan Hsu; Celeste Panteghini; Luca Magistrelli; Ettore Salsano; Silvia Esposito; Franco Taroni; Anne-Claire Richard; Christine Tranchant; Mathieu Anheim; Xavier Ayrignac; Cyril Goizet; Marie Vidailhet; David Maltete; David Wallon; Thierry Frebourg; Lylyan Pimentel; Daniel H Geschwind; Olivier Vanakker; Douglas Galasko; Brent L Fogel; A Micheil Innes; Alison Ross; William B Dobyns; Diana Alcantara; Mark O'Driscoll; Didier Hannequin; Dominique Campion; João R Oliveira; Barbara Garavaglia; Giovanni Coppola; Gaël Nicolas
Journal:  Eur J Hum Genet       Date:  2018-06-28       Impact factor: 4.246

2.  Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.

Authors:  O Gebus; S Montaut; B Monga; T Wirth; C Cheraud; C Alves Do Rego; I Zinchenko; G Carré; M Hamdaoui; G Hautecloque; L Nguyen-Them; B Lannes; J B Chanson; O Lagha-Boukbiza; M C Fleury; D Devys; G Nicolas; G Rudolf; M Bereau; M Mallaret; M Renaud; C Acquaviva; M Koenig; M Koob; S Kremer; I J Namer; C Cazeneuve; A Echaniz-Laguna; C Tranchant; Mathieu Anheim
Journal:  J Neurol       Date:  2017-05-06       Impact factor: 4.849

3.  Novel mutation of SLC20A2 in an Italian patient presenting with migraine.

Authors:  Elisa Rubino; Elisa Giorgio; Salvatore Gallone; Lorenzo Pinessi; Laura Orsi; Salvatore Gentile; Sergio Duca; Alfredo Brusco
Journal:  J Neurol       Date:  2014-09-02       Impact factor: 4.849

4.  Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation.

Authors:  Oddveig Røsby; Andrea Legati; Giovanni Coppola
Journal:  J Neurol       Date:  2016-02-09       Impact factor: 4.849

Review 5.  Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets.

Authors:  Melissa E M Peters; Esther J M de Brouwer; Jonas W Bartstra; Willem P Th M Mali; Huiberdina L Koek; Annemieke J M Rozemuller; Annette F Baas; Pim A de Jong
Journal:  Neurol Clin Pract       Date:  2020-10

6.  First report of a de novo mutation at SLC20A2 in a patient with brain calcification.

Authors:  J B Ferreira; L Pimentel; M P Keasey; R R Lemos; L M Santos; M F Oliveira; S Santos; N Jensen; K Teixeira; L Pedersen; C R Rocha; M R Dias da Silva; J R M Oliveira
Journal:  J Mol Neurosci       Date:  2014-06-27       Impact factor: 3.444

7.  A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Association in Chinese Patients.

Authors:  Yan Ding; Hui-Qing Dong
Journal:  Chin Med J (Engl)       Date:  2018-04-05       Impact factor: 2.628

8.  Clinical and radiological diversity in genetically confirmed primary familial brain calcification.

Authors:  Shingo Koyama; Hidenori Sato; Ryota Kobayashi; Shinobu Kawakatsu; Masayuki Kurimura; Manabu Wada; Toru Kawanami; Takeo Kato
Journal:  Sci Rep       Date:  2017-09-21       Impact factor: 4.379

9.  Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid.

Authors:  Nina Jensen; Jacob Kwasi Autzen; Lene Pedersen
Journal:  Neurogenetics       Date:  2015-12-12       Impact factor: 2.660
  9 in total

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