Literature DB >> 14673588

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study.

Monica Sciacco, Alessandro Prelle, Elisabetta D'Adda, Costanza Lamperti, Andreina Bordoni, Mario Rango, Marco Crimi, Giacomo P Comi, Nereo Bresolin, Maurizio Moggio.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2003        PMID: 14673588     DOI: 10.1007/s00415-003-0246-6

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  6 in total

1.  Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.

Authors:  M D'Aurelio; C Vives-Bauza; M M Davidson; G Manfredi
Journal:  Hum Mol Genet       Date:  2009-10-29       Impact factor: 6.150

2.  Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation.

Authors:  Michael K Yoon; Austin Roorda; Yuhua Zhang; Chiaki Nakanishi; Lee-Jun C Wong; Qing Zhang; Leslie Gillum; Ari Green; Jacque L Duncan
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-11-07       Impact factor: 4.799

3.  Heterogeneous patterns of tissue injury in NARP syndrome.

Authors:  Jeffrey M Gelfand; Jacque L Duncan; Caroline A Racine; Leslie A Gillum; Cynthia T Chin; Yuhua Zhang; Qing Zhang; Lee-Jun C Wong; Austin Roorda; Ari J Green
Journal:  J Neurol       Date:  2010-10-16       Impact factor: 4.849

4.  Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy.

Authors:  Helene Bruhn; Kristin Samuelsson; Florian A Schober; Martin Engvall; Nicole Lesko; Rolf Wibom; Inger Nennesmo; Javier Calvo-Garrido; Rayomand Press; Henrik Stranneheim; Christoph Freyer; Anna Wedell; Anna Wredenberg
Journal:  Neurol Genet       Date:  2021-03-15

Review 5.  Mitochondrial Neurodegeneration.

Authors:  Massimo Zeviani; Carlo Viscomi
Journal:  Cells       Date:  2022-02-11       Impact factor: 6.600

6.  NARP Syndrome: A 20-Year Follow-Up.

Authors:  Mark J Rawle; A J Larner
Journal:  Case Rep Neurol       Date:  2013-12-19
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.