Literature DB >> 29717375

Cerebellar atrophy is common among mitochondrial disorders.

Josef Finsterer1, Sinda Zarrouk-Mahjoub2.   

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Year:  2018        PMID： 29717375     DOI： 10.1007/s11011-018-0238-y

Source DB:  PubMed          Journal:  Metab Brain Dis        ISSN： 0885-7490            Impact factor:   3.584


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  21 in total

1.  Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

Authors:  Agathe Roubertie; Nicolas Leboucq; Marie Christine Picot; Erika Nogue; Hervé Brunel; Emmanuelle Le Bars; Gael Manes; Claire Angebault Prouteau; Catherine Blanchet; Michel Mondain; Hugues Chevassus; Patrizia Amati-Bonneau; Emmanuelle Sarzi; Michel Pagès; Max Villain; Isabelle Meunier; Guy Lenaers; Christian P Hamel
Journal:  J Neurol Sci       Date:  2015-01-13       Impact factor: 3.181

2.  Distinctive distribution of brain volume reductions in MELAS and mitochondrial DNA A3243G mutation carriers: A voxel-based morphometric study.

Authors:  Koyo Tsujikawa; Joe Senda; Keizo Yasui; Yasuhiro Hasegawa; Minoru Hoshiyama; Masahisa Katsuno; Gen Sobue
Journal:  Mitochondrion       Date:  2016-08-21       Impact factor: 4.160

3.  FDG-PET study of patients with Leigh syndrome.

Authors:  Kauzhiro Haginoya; Tomohiro Kaneta; Noriko Togashi; Naomi Hino-Fukuyo; Tomoko Kobayashi; Mitsugu Uematsu; Taro Kitamura; Takehiko Inui; Yukimune Okubo; Yusuke Takezawa; Mai Anzai; Wakaba Endo; Noriko Miyake; Hirotomo Saitsu; Naomichi Matsumoto; Shigeo Kure
Journal:  J Neurol Sci       Date:  2016-02-04       Impact factor: 3.181

4.  Phenotypic spectrum of POLG1 mutations.

Authors:  Josef Finsterer; Fulvio A Scorza
Journal:  Neurol Sci       Date:  2017-09-13       Impact factor: 3.307

5.  Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.

Authors:  M Nguyen; I Boesten; D M E I Hellebrekers; N M Mulder-den Hartog; I F M de Coo; H J M Smeets; M Gerards
Journal:  Clin Genet       Date:  2016-04-08       Impact factor: 4.438

6.  Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation.

Authors:  S Ito; W Shirai; M Asahina; T Hattori
Journal:  AJNR Am J Neuroradiol       Date:  2007-11-07       Impact factor: 3.825

7.  Infantile-onset spinocerebellar ataxia: MR and CT findings.

Authors:  T Koskinen; L Valanne; L M Ketonen; H Pihko
Journal:  AJNR Am J Neuroradiol       Date:  1995-08       Impact factor: 3.825

8.  Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report.

Authors:  Zhan-Yun Lv; Xue-Mei Xu; Xiao-Fu Cao; Qian Wang; Da-Fang Sun; Wen-Jing Tian; Yan Yang; Yu-Zhong Wang; Yan-Lei Hao
Journal:  Medicine (Baltimore)       Date:  2017-12       Impact factor: 1.817

9.  Early brain vulnerability in Wolfram syndrome.

Authors:  Tamara Hershey; Heather M Lugar; Joshua S Shimony; Jerrel Rutlin; Jonathan M Koller; Dana C Perantie; Alex R Paciorkowski; Sarah A Eisenstein; M Alan Permutt
Journal:  PLoS One       Date:  2012-07-11       Impact factor: 3.240

10.  RARS2 mutations in a sibship with infantile spasms.

Authors:  Adeline Ngoh; Jose Bras; Rita Guerreiro; Esther Meyer; Amy McTague; Eleanor Dawson; Kshitij Mankad; Roxana Gunny; Peter Clayton; Philippa B Mills; Rachel Thornton; Ming Lai; Robert Forsyth; Manju A Kurian
Journal:  Epilepsia       Date:  2016-04-08       Impact factor: 5.864
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  2 in total

1.  C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.

Authors:  Eva Lausberg; Sebastian Gießelmann; Joseph P Dewulf; Elsa Wiame; Anja Holz; Ramona Salvarinova; Clara D van Karnebeek; Patricia Klemm; Kim Ohl; Michael Mull; Till Braunschweig; Joachim Weis; Clemens J Sommer; Stephanie Demuth; Claudia Haase; Claudia Stollbrink-Peschgens; François-Guillaume Debray; Cecile Libioulle; Daniela Choukair; Prasad T Oommen; Arndt Borkhardt; Harald Surowy; Dagmar Wieczorek; Norbert Wagner; Robert Meyer; Thomas Eggermann; Matthias Begemann; Emile Van Schaftingen; Martin Häusler; Klaus Tenbrock; Lambert van den Heuvel; Miriam Elbracht; Ingo Kurth; Florian Kraft
Journal:  J Clin Invest       Date:  2021-06-15       Impact factor: 14.808

2.  Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with progressive sensorineural hearing loss: A case report.

Authors:  T M Trang; P C Chien; B T Dung; N T H Thu; N T T Truc; V N C Khang
Journal:  Radiol Case Rep       Date:  2021-05-24
  2 in total

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