Literature DB >> 20878492

M.3243A>G: many faces of one single point mutation.

Martin Windpessl, Manfred Wallner.   

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Year:  2010        PMID： 20878492     DOI： 10.1007/s00508-010-1458-2

Source DB:  PubMed          Journal:  Wien Klin Wochenschr        ISSN： 0043-5325            Impact factor:   1.704


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  7 in total

1.  Maternally inherited diabetes and deafness: a multicenter study.

Authors:  P J Guillausseau; P Massin; D Dubois-LaForgue; J Timsit; M Virally; H Gin; E Bertin; J F Blickle; B Bouhanick; J Cahen; S Caillat-Zucman; G Charpentier; P Chedin; C Derrien; P H Ducluzeau; A Grimaldi; B Guerci; E Kaloustian; A Murat; F Olivier; M Paques; V Paquis-Flucklinger; B Porokhov; J Samuel-Lajeunesse; B Vialettes
Journal:  Ann Intern Med       Date:  2001-05-01       Impact factor: 25.391

Review 2.  Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation.

Authors:  R Murphy; D M Turnbull; M Walker; A T Hattersley
Journal:  Diabet Med       Date:  2008-02-18       Impact factor: 4.359

3.  Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract.

Authors:  P F Chinnery; S Jones; L Sviland; R M Andrews; T J Parsons; D M Turnbull; L A Bindoff
Journal:  Gut       Date:  2001-01       Impact factor: 23.059

4.  MELAS: a mitochondrial disorder in an adult patient with a renal transplant.

Authors:  Stephan R Lederer; Thomas Klopstock; Helmut Schiffl
Journal:  Wien Klin Wochenschr       Date:  2010-06-17       Impact factor: 1.704

5.  Intestinal pseudo-obstruction and urinary retention: cardinal features of a mitochondrial DNA-related disease.

Authors:  A García-Velasco; C Gómez-Escalonilla; J M Guerra-Vales; A Cabello; Y Campos; J Arenas
Journal:  J Intern Med       Date:  2003-03       Impact factor: 8.989

6.  Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.

Authors:  J M van den Ouweland; H H Lemkes; W Ruitenbeek; L A Sandkuijl; M F de Vijlder; P A Struyvenberg; J J van de Kamp; J A Maassen
Journal:  Nat Genet       Date:  1992-08       Impact factor: 38.330

7.  The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation.

Authors:  Bruno Guéry; Gabriel Choukroun; Laure-Hélène Noël; Pierre Clavel; Agnès Rötig; Sophie Lebon; Pierre Rustin; Christine Bellané-Chantelot; Béatrice Mougenot; Jean-Pierre Grünfeld; Dominique Chauveau
Journal:  J Am Soc Nephrol       Date:  2003-08       Impact factor: 10.121
  7 in total
  3 in total

1.  Fidaxomicin for Clostridium difficile Colitis in a peritoneal dialysis patient with underlying mitochondriopathy.

Authors:  M Windpessl; M Wallner
Journal:  Perit Dial Int       Date:  2014 Jan-Feb       Impact factor: 1.756

2.  Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome.

Authors:  Giorgina Barbara Piccoli; Laura Davico Bonino; Paola Campisi; Federica Neve Vigotti; Martina Ferraresi; Federica Fassio; Isabelle Brocheriou; Francesco Porpiglia; Gabriella Restagno
Journal:  BMC Nephrol       Date:  2012-02-21       Impact factor: 2.388

Review 3.  Renal manifestations of genetic mitochondrial disease.

Authors:  John F O'Toole
Journal:  Int J Nephrol Renovasc Dis       Date:  2014-01-31
  3 in total

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