Literature DB >> 25934856

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.

Anna Ardissone1, Giuseppe Piscosquito1, Andrea Legati1, Tiziana Langella1, Eleonora Lamantea1, Barbara Garavaglia1, Ettore Salsano1, Laura Farina1, Isabella Moroni1, Davide Pareyson2, Daniele Ghezzi2.   

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Year:  2015        PMID： 25934856      PMCID： PMC4451043          DOI： 10.1212/WNL.0000000000001613

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

1.  Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.

Authors:  Itai Berger; Ziva Ben-Neriah; Talia Dor-Wolman; Avraham Shaag; Ann Saada; Shamir Zenvirt; Annick Raas-Rothschild; Michel Nadjari; Klaus H Kaestner; Orly Elpeleg
Journal:  Mol Genet Metab       Date:  2011-09-24       Impact factor: 4.797

2.  Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

Authors:  Daniele Ghezzi; Irina Sevrioukova; Federica Invernizzi; Costanza Lamperti; Marina Mora; Pio D'Adamo; Francesca Novara; Orsetta Zuffardi; Graziella Uziel; Massimo Zeviani
Journal:  Am J Hum Genet       Date:  2010-04-01       Impact factor: 11.025

Review 3.  Apoptosis-inducing factor: structure, function, and redox regulation.

Authors:  Irina F Sevrioukova
Journal:  Antioxid Redox Signal       Date:  2011-03-10       Impact factor: 8.401

4.  AIF deficiency compromises oxidative phosphorylation.

Authors:  Nicola Vahsen; Céline Candé; Jean-Jacques Brière; Paule Bénit; Nicholas Joza; Nathanael Larochette; Pier Giorgio Mastroberardino; Marie O Pequignot; Noelia Casares; Vladimir Lazar; Olivier Feraud; Najet Debili; Silke Wissing; Silvia Engelhardt; Frank Madeo; Mauro Piacentini; Josef M Penninger; Hermann Schägger; Pierre Rustin; Guido Kroemer
Journal:  EMBO J       Date:  2004-11-04       Impact factor: 11.598

Review 5.  AIF, reactive oxygen species, and neurodegeneration: a "complex" problem.

Authors:  Brian M Polster
Journal:  Neurochem Int       Date:  2012-12-12       Impact factor: 3.921

6.  Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

Authors:  Carlo Rinaldi; Christopher Grunseich; Irina F Sevrioukova; Alice Schindler; Iren Horkayne-Szakaly; Costanza Lamperti; Guida Landouré; Marina L Kennerson; Barrington G Burnett; Carsten Bönnemann; Leslie G Biesecker; Daniele Ghezzi; Massimo Zeviani; Kenneth H Fischbeck
Journal:  Am J Hum Genet       Date:  2012-12-07       Impact factor: 11.025

7.  X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.

Authors:  F S Cowchock; S W Duckett; L J Streletz; L J Graziani; L G Jackson
Journal:  Am J Med Genet       Date:  1985-02
  7 in total
  22 in total

Review 1.  Riboflavin in Neurological Diseases: A Narrative Review.

Authors:  Domenico Plantone; Matteo Pardini; Giuseppe Rinaldi
Journal:  Clin Drug Investig       Date:  2021-04-22       Impact factor: 2.859

2.  Hypertrophic olivary degeneration: a description of four cases of and a literature analysis.

Authors:  Qian Gao; Zhenfei Li; Cong Guo; Shi Wang; Xueyu Liu; Qiao Wei; Xuan Zhou; Liping Chen
Journal:  Quant Imaging Med Surg       Date:  2022-06

3.  Hypertrophic olivary degeneration: A clinico-radiologic study.

Authors:  Takuya Konno; Daniel F Broderick; Pawel Tacik; John N Caviness; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2016-04-12       Impact factor: 4.891

Review 4.  Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.

Authors:  Sonia Figuccia; Andrea Degiorgi; Camilla Ceccatelli Berti; Enrico Baruffini; Cristina Dallabona; Paola Goffrini
Journal:  Int J Mol Sci       Date:  2021-04-26       Impact factor: 5.923

Review 5.  Key Targets for Multi-Target Ligands Designed to Combat Neurodegeneration.

Authors:  Rona R Ramsay; Magdalena Majekova; Milagros Medina; Massimo Valoti
Journal:  Front Neurosci       Date:  2016-08-22       Impact factor: 4.677

6.  AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant.

Authors:  Sarah U Morton; Sanjay P Prabhu; Hart G W Lidov; Jiahai Shi; Irina Anselm; Catherine A Brownstein; Matthew N Bainbridge; Alan H Beggs; Sara O Vargas; Pankaj B Agrawal
Journal:  Cold Spring Harb Mol Case Stud       Date:  2017-03

7.  WAH-1/AIF regulates mitochondrial oxidative phosphorylation in the nematode Caenorhabditis elegans.

Authors:  Kostoula Troulinaki; Sven Büttner; Anaïs Marsal Cots; Simona Maida; Katharina Meyer; Fabio Bertan; Anna Gioran; Antonia Piazzesi; Alessandra Fornarelli; Pierluigi Nicotera; Daniele Bano
Journal:  Cell Death Discov       Date:  2018-01-29

8.  Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant.

Authors:  Tonya Moss; Melanie May; Heather Flanagan-Steet; Raymond Caylor; Yong-Hui Jiang; Marie McDonald; Michael Friez; Allyn McConkie-Rosell; Richard Steet
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-06-11

9.  Loss of apoptosis-inducing factor critically affects MIA40 function.

Authors:  K Meyer; S Buettner; D Ghezzi; M Zeviani; D Bano; P Nicotera
Journal:  Cell Death Dis       Date:  2015-07-09       Impact factor: 8.469

Review 10.  Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Authors:  Eduardo Ruiz-Pesini; Julio Montoya; David Pacheu-Grau
Journal:  Genes (Basel)       Date:  2021-07-01       Impact factor: 4.096
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