Literature DB >> 30089829

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.

Ashley P L Marsh1,2, Gaia Novarino3, Paul J Lockhart1,2, Richard J Leventer4,5,6.   

Abstract

1. NAME OF DISEASE (SYNONYMS): Pontocerebellar hypoplasia type 9 (PCH9) and spastic paraplegia-63 (SPG63). 2. OMIM# OF THE DISEASE: 615809 and 615686. 3. NAME OF THE ANALYSED GENES OR DNA/CHROMOSOME SEGMENTS: AMPD2 at 1p13.3. 4. OMIM# OF THE GENE(S): 102771.

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Year:  2018        PMID： 30089829      PMCID： PMC6303251          DOI： 10.1038/s41431-018-0231-2

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  18 in total

1.  Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia.

Authors:  B Ben-Zeev; C Hoffman; D Lev; N Watemberg; G Malinger; N Brand; T Lerman-Sagie
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

2.  A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Authors:  Ashley P L Marsh; Patrick Yap; Tiong Tan; Kate Pope; Susan M White; Belinda Chong; George Mcgillivray; Amber Boys; Sarah E M Stephenson; Richard J Leventer; Zornitza Stark; Paul J Lockhart
Journal:  Am J Med Genet A       Date:  2017-02-07       Impact factor: 2.802

3.  Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Authors:  Fanny Kortüm; Rami Abou Jamra; Malik Alawi; Susan A Berry; Guntram Borck; Katherine L Helbig; Sha Tang; Dagmar Huhle; Georg Christoph Korenke; Malavika Hebbar; Anju Shukla; Katta M Girisha; Maja Steinlin; Sandra Waldmeier-Wilhelm; Martino Montomoli; Renzo Guerrini; Johannes R Lemke; Kerstin Kutsche
Journal:  Eur J Hum Genet       Date:  2018-02-20       Impact factor: 4.246

4.  Whole exome sequencing in patients with white matter abnormalities.

Authors:  Adeline Vanderver; Cas Simons; Guy Helman; Joanna Crawford; Nicole I Wolf; Geneviève Bernard; Amy Pizzino; Johanna L Schmidt; Asako Takanohashi; David Miller; Amirah Khouzam; Vani Rajan; Erica Ramos; Shimul Chowdhury; Tina Hambuch; Kelin Ru; Gregory J Baillie; Sean M Grimmond; Ljubica Caldovic; Joseph Devaney; Miriam Bloom; Sarah H Evans; Jennifer L P Murphy; Nathan McNeill; Brent L Fogel; Raphael Schiffmann; Marjo S van der Knaap; Ryan J Taft
Journal:  Ann Neurol       Date:  2016-05-09       Impact factor: 10.422

5.  Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Authors:  Gaia Novarino; Ali G Fenstermaker; Maha S Zaki; Matan Hofree; Jennifer L Silhavy; Andrew D Heiberg; Mostafa Abdellateef; Basak Rosti; Eric Scott; Lobna Mansour; Amira Masri; Hulya Kayserili; Jumana Y Al-Aama; Ghada M H Abdel-Salam; Ariana Karminejad; Majdi Kara; Bulent Kara; Bita Bozorgmehri; Tawfeg Ben-Omran; Faezeh Mojahedi; Iman Gamal El Din Mahmoud; Naima Bouslam; Ahmed Bouhouche; Ali Benomar; Sylvain Hanein; Laure Raymond; Sylvie Forlani; Massimo Mascaro; Laila Selim; Nabil Shehata; Nasir Al-Allawi; P S Bindu; Matloob Azam; Murat Gunel; Ahmet Caglayan; Kaya Bilguvar; Aslihan Tolun; Mahmoud Y Issa; Jana Schroth; Emily G Spencer; Rasim O Rosti; Naiara Akizu; Keith K Vaux; Anide Johansen; Alice A Koh; Hisham Megahed; Alexandra Durr; Alexis Brice; Giovanni Stevanin; Stacy B Gabriel; Trey Ideker; Joseph G Gleeson
Journal:  Science       Date:  2014-01-31       Impact factor: 47.728

6.  AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

Authors:  Naiara Akizu; Vincent Cantagrel; Jana Schroth; Na Cai; Keith Vaux; Douglas McCloskey; Robert K Naviaux; Jeremy Van Vleet; Ali G Fenstermaker; Jennifer L Silhavy; Judith S Scheliga; Keiko Toyama; Hiroko Morisaki; Fatma M Sonmez; Figen Celep; Azza Oraby; Maha S Zaki; Raidah Al-Baradie; Eissa A Faqeih; Mohammed A M Saleh; Emily Spencer; Rasim Ozgur Rosti; Eric Scott; Elizabeth Nickerson; Stacey Gabriel; Takayuki Morisaki; Edward W Holmes; Joseph G Gleeson
Journal:  Cell       Date:  2013-08-01       Impact factor: 41.582

7.  Teaching NeuroImages: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9).

Authors:  Mariasavina Severino; Federico Zara; Andrea Rossi; Pasquale Striano
Journal:  Neurology       Date:  2017-10-03       Impact factor: 9.910

8.  Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

Authors:  Kelly D Farwell; Layla Shahmirzadi; Dima El-Khechen; Zöe Powis; Elizabeth C Chao; Brigette Tippin Davis; Ruth M Baxter; Wenqi Zeng; Cameron Mroske; Melissa C Parra; Stephanie K Gandomi; Ira Lu; Xiang Li; Hong Lu; Hsiao-Mei Lu; David Salvador; David Ruble; Monica Lao; Soren Fischbach; Jennifer Wen; Shela Lee; Aaron Elliott; Charles L M Dunlop; Sha Tang
Journal:  Genet Med       Date:  2014-11-13       Impact factor: 8.822

9.  Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Authors:  Andrea Accogli; Michele Iacomino; Francesca Pinto; Alessandro Orsini; Maria Stella Vari; Raed Selmi; Annalaura Torella; Vincenzo Nigro; Carlo Minetti; Mariasavina Severino; Pasquale Striano; Valeria Capra; Federico Zara
Journal:  Neurol Genet       Date:  2017-08-09

10.  Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

Authors:  Ashley P L Marsh; Vesna Lukic; Kate Pope; Catherine Bromhead; Rick Tankard; Monique M Ryan; Eppie M Yiu; Joe C H Sim; Martin B Delatycki; David J Amor; George McGillivray; Elliott H Sherr; Melanie Bahlo; Richard J Leventer; Paul J Lockhart
Journal:  Neurol Genet       Date:  2015-07-16
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