Literature DB >> 30136164

Adult-onset Leigh syndrome with central fever and peripheral neuropathy due to mitochondrial 9176T>C mutation.

Yanping Wei1, Lin Wang2.   

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Year:  2018        PMID: 30136164     DOI: 10.1007/s10072-018-3541-9

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


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  10 in total

1.  A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.

Authors:  R Carrozzo; J Murray; O Capuano; A Tessa; G Chichierchia; M R Neglia; R A Capaldi; F M Santorelli
Journal:  Neurol Sci       Date:  2000       Impact factor: 3.307

Review 2.  Leigh and Leigh-like syndrome in children and adults.

Authors:  Josef Finsterer
Journal:  Pediatr Neurol       Date:  2008-10       Impact factor: 3.372

3.  Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.

Authors:  Y Campos; M A Martín; J C Rubio; L G Solana; C García-Benayas; J L Terradas; J Arenas
Journal:  Neurology       Date:  1997-08       Impact factor: 9.910

4.  Mitochondrial DNA point mutation T9176C in Leigh syndrome.

Authors:  C J Wilson; N W Wood; J V Leonard; R Surtees; S Rahman
Journal:  J Child Neurol       Date:  2000-12       Impact factor: 1.987

5.  Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

Authors:  Christophe Verny; Naig Guegen; Valerie Desquiret; Arnaud Chevrollier; Adriana Prundean; Frederic Dubas; Julien Cassereau; Marc Ferre; Patrizia Amati-Bonneau; Dominique Bonneau; Pascal Reynier; Vincent Procaccio
Journal:  Mitochondrion       Date:  2010-07-22       Impact factor: 4.160

6.  Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver.

Authors:  P M Van Erven; F J Gabreëls; W Ruitenbeek; M R Den Hartog; J C Fischer; W O Renier; J M Trijbels; J L Slooff; A J Janssen
Journal:  Acta Neurol Scand       Date:  1985-07       Impact factor: 3.209

7.  Non-infectious fever in the neurological intensive care unit: incidence, causes and predictors.

Authors:  Alejandro A Rabinstein; Kirsten Sandhu
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-11       Impact factor: 10.154

8.  Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

Authors:  Dario Ronchi; Andreina Bordoni; Alessandra Cosi; Mafalda Rizzuti; Elisa Fassone; Alessio Di Fonzo; Maura Servida; Monica Sciacco; Martina Collotta; Marco Ronzoni; Valeria Lucchini; Marco Mattioli; Maurizio Moggio; Nereo Bresolin; Stefania Corti; Giacomo P Comi
Journal:  Biochem Biophys Res Commun       Date:  2011-07-27       Impact factor: 3.575

Review 9.  Peripheral neuropathy in mitochondrial disorders.

Authors:  Davide Pareyson; Giuseppe Piscosquito; Isabella Moroni; Ettore Salsano; Massimo Zeviani
Journal:  Lancet Neurol       Date:  2013-10       Impact factor: 44.182

10.  Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation.

Authors:  Miguel Chuquilin; Raghav Govindarajan; Dawn Peck; Esperanza Font-Montgomery
Journal:  Mol Genet Metab Rep       Date:  2016-07-01
  10 in total
  3 in total

1.  Acute necrotizing encephalopathy of childhood associated with human herpes virus 6 in Croatia.

Authors:  Vedran Stevanović; Zoran Barušić; Klaudija Višković; Oktavija Đaković Rode; Goran Tešović
Journal:  Neurol Sci       Date:  2018-10-29       Impact factor: 3.830

Review 2.  The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence.

Authors:  Allison Hanaford; Simon C Johnson
Journal:  Orphanet J Rare Dis       Date:  2022-09-02       Impact factor: 4.303

3.  Leukocytes mediate disease pathogenesis in the Ndufs4(KO) mouse model of Leigh syndrome.

Authors:  Julia C Stokes; Rebecca L Bornstein; Katerina James; Kyung Yeon Park; Kira A Spencer; Katie Vo; John C Snell; Brittany M Johnson; Philip G Morgan; Margaret M Sedensky; Nathan A Baertsch; Simon C Johnson
Journal:  JCI Insight       Date:  2022-03-08
  3 in total

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