Literature DB >> 29488078

Cerebellar atrophy with T2/FLAIR hyperintense cerebellar cortex: a new imaging phenotype of combined complex II/III deficiency.

Ai Peng Tan1, Carlos Robles2, Kshitij Mankad3.   

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Year:  2018        PMID： 29488078     DOI： 10.1007/s00381-018-3762-5

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN： 0256-7040            Impact factor:   1.475


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  10 in total

1.  The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.

Authors:  P Feraco; M Mirabelli-Badenier; M Severino; M G Alpigiani; M Di Rocco; R Biancheri; A Rossi
Journal:  AJNR Am J Neuroradiol       Date:  2012-06-21       Impact factor: 3.825

2.  Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

Authors:  B Parfait; D Chretien; A Rötig; C Marsac; A Munnich; P Rustin
Journal:  Hum Genet       Date:  2000-02       Impact factor: 4.132

3.  Succinate dehydrogenase deficiency.

Authors:  G D Vladutiu; R R Heffner
Journal:  Arch Pathol Lab Med       Date:  2000-12       Impact factor: 5.534

Review 4.  Mitochondrial dysfunction in glial cells: Implications for neuronal homeostasis and survival.

Authors:  Jordan Rose; Christian Brian; Jade Woods; Aglaia Pappa; Mihalis I Panayiotidis; Robert Powers; Rodrigo Franco
Journal:  Toxicology       Date:  2017-06-26       Impact factor: 4.221

Review 5.  Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases.

Authors:  E Trushina; C T McMurray
Journal:  Neuroscience       Date:  2007-02-14       Impact factor: 3.590

Review 6.  Complex II deficiency--a case report and review of the literature.

Authors:  Shailly Jain-Ghai; Jessie M Cameron; Almundher Al Maawali; Susan Blaser; Nevena MacKay; Brian Robinson; Julian Raiman
Journal:  Am J Med Genet A       Date:  2013-01-15       Impact factor: 2.802

7.  Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex.

Authors:  Kenji Sakai; Mari Tada; Yosuke Yonemochi; Takashi Nakajima; Osamu Onodera; Hitoshi Takahashi; Akiyoshi Kakita
Journal:  Neuropathology       Date:  2008-04-11       Impact factor: 1.906

8.  Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update.

Authors:  Andrea Poretti; Nicole I Wolf; Eugen Boltshauser
Journal:  Neuropediatrics       Date:  2015-10-07       Impact factor: 1.947

9.  SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Authors:  Daniele Ghezzi; Paola Goffrini; Graziella Uziel; Rita Horvath; Thomas Klopstock; Hanns Lochmüller; Pio D'Adamo; Paolo Gasparini; Tim M Strom; Holger Prokisch; Federica Invernizzi; Ileana Ferrero; Massimo Zeviani
Journal:  Nat Genet       Date:  2009-05-24       Impact factor: 38.330

Review 10.  The genetics and pathology of mitochondrial disease.

Authors:  Charlotte L Alston; Mariana C Rocha; Nichola Z Lax; Doug M Turnbull; Robert W Taylor
Journal:  J Pathol       Date:  2016-11-02       Impact factor: 7.996
  10 in total
  1 in total

1.  Imaging Patterns Characterizing Mitochondrial Leukodystrophies.

Authors:  S D Roosendaal; T van de Brug; C A P F Alves; S Blaser; A Vanderver; N I Wolf; M S van der Knaap
Journal:  AJNR Am J Neuroradiol       Date:  2021-04-01       Impact factor: 4.966
  1 in total

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