Literature DB >> 35359541

Parkinsonism, Olivary Hypertrophy and Cerebellar Atrophy with TTC19 Gene Mutation.

Rohan R Mahale1, Gautham Arunachal1, Jyothi Gautam1, Debayan Dutta1, Jennifer Kovoor1, Pooja Mailankody1, Hansashree Padmanabha1, P S Mathuranath1.   

Abstract

Entities:  

Year:  2021        PMID： 35359541      PMCID： PMC8965927          DOI： 10.4103/aian.AIAN_625_20

Source DB:  PubMed          Journal:  Ann Indian Acad Neurol        ISSN： 0972-2327            Impact factor:   1.383


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  8 in total

1.  Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.

Authors:  Daniele Ghezzi; Paola Arzuffi; Mauro Zordan; Caterina Da Re; Costanza Lamperti; Clara Benna; Pio D'Adamo; Daria Diodato; Rodolfo Costa; Caterina Mariotti; Graziella Uziel; Cristina Smiderle; Massimo Zeviani
Journal:  Nat Genet       Date:  2011-01-30       Impact factor: 38.330

Review 2.  The clinical maze of mitochondrial neurology.

Authors:  Salvatore DiMauro; Eric A Schon; Valerio Carelli; Michio Hirano
Journal:  Nat Rev Neurol       Date:  2013-07-09       Impact factor: 42.937

Review 3.  A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.

Authors:  Misako Kunii; Hiroshi Doi; Yuichi Higashiyama; Chiharu Kugimoto; Naohisa Ueda; Junichi Hirata; Atsuko Tomita-Katsumoto; Mari Kashikura-Kojima; Shun Kubota; Midori Taniguchi; Kei Murayama; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Naomichi Matsumoto; Fumiaki Tanaka
Journal:  J Hum Genet       Date:  2015-02-05       Impact factor: 3.172

4.  Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.

Authors:  Célia Nogueira; José Barros; Maria José Sá; Luísa Azevedo; Ricardo Taipa; Alessandra Torraco; Maria Chiara Meschini; Daniela Verrigni; Claudia Nesti; Teresa Rizza; João Teixeira; Rosalba Carrozzo; Manuel Melo Pires; Laura Vilarinho; Filippo M Santorelli
Journal:  Neurogenetics       Date:  2013-03-28       Impact factor: 2.660

5.  Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome.

Authors:  P S Atwal
Journal:  JIMD Rep       Date:  2013-12-25

6.  Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.

Authors:  Johannes Koch; Peter Freisinger; René G Feichtinger; Franz A Zimmermann; Christian Rauscher; Hans P Wagentristl; Vassiliki Konstantopoulou; Rainer Seidl; Tobias B Haack; Holger Prokisch; Uwe Ahting; Wolfgang Sperl; Johannes A Mayr; Esther M Maier
Journal:  Orphanet J Rare Dis       Date:  2015-04-02       Impact factor: 4.123

7.  Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.

Authors:  Hiroyuki Morino; Ryosuke Miyamoto; Shizuo Ohnishi; Hirofumi Maruyama; Hideshi Kawakami
Journal:  BMC Neurol       Date:  2014-01-07       Impact factor: 2.474

8.  A Novel TTC19 Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.

Authors:  Parham Habibzadeh; Soroor Inaloo; Mohammad Silawi; Hassan Dastsooz; Mohammad Ali Farazi Fard; Forough Sadeghipour; Zahra Faghihi; Mohaddeseh Rezaeian; Majid Yavarian; Johann Böhm; Mohammad Ali Faghihi
Journal:  Front Neurol       Date:  2019-09-04       Impact factor: 4.003
  8 in total

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