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Literature DB >> 28905223

Phenotypic spectrum of POLG1 mutations.

Josef Finsterer¹, Fulvio A Scorza².

Abstract

Entities: Gene

Mesh：

Substances：

Year: 2017 PMID： 28905223 DOI： 10.1007/s10072-017-3116-1

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

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5 in total

Review 1. The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Authors: Carmela Scuderi; Eugenia Borgione; Filippa Castello; Mariangela Lo Giudice; Sandro Santa Paola; Mariaconcetta Giambirtone; Francesco Domenico Di Blasi; Maurizio Elia; Carmelo Amato; Santina Città; Catalda Gagliano; Giuliano Barbarino; Girolamo Aurelio Vitello; Sebastiano Antonino Musumeci
Journal: Neuromuscul Disord Date: 2015-01-19 Impact factor: 4.296

2. Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

Authors: Paola Da Pozzo; Elena Cardaioli; Anna Rubegni; Gian Nicola Gallus; Alessandro Malandrini; Alessandra Rufa; Carla Battisti; Maria Alessandra Carluccio; Raffaele Rocchi; Fabio Giannini; Amedeo Bianchi; Michelangelo Mancuso; Gabriele Siciliano; Maria Teresa Dotti; Antonio Federico
Journal: Neurol Sci Date: 2017-01-27 Impact factor: 3.307

Review 3. Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.

Authors: Anne Vital; Sebastien Lepreux; Claude Vital
Journal: J Peripher Nerv Syst Date: 2014-12 Impact factor: 3.494

Review 4. Mitochondrial dysfunction and oxidative stress in corneal disease.

Authors: Neeru A Vallabh; Vito Romano; Colin E Willoughby
Journal: Mitochondrion Date: 2017-05-23 Impact factor: 4.160

5. UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

Authors: Michael L Nickerson; Brittany N Kostiha; Wolfgang Brandt; William Fredericks; Ke-Ping Xu; Fu-Shin Yu; Bert Gold; James Chodosh; Marc Goldberg; Da Wen Lu; Masakazu Yamada; Timo M Tervo; Richard Grutzmacher; Chris Croasdale; Maria Hoeltzenbein; John Sutphin; S Bruce Malkowicz; Ludger Wessjohann; Howard S Kruth; Michael Dean; Jayne S Weiss
Journal: PLoS One Date: 2010-05-21 Impact factor: 3.240

5 in total

4 in total

Phenotypic spectrum of POLG1 mutations.

Review 1. The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

2. Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.

Review 3. Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.

Review 4. Mitochondrial dysfunction and oxidative stress in corneal disease.

5. UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

1. News on the journal Neurological Sciences in 2017.

2. Replay to: Phenotypic spectrum of POLG1 mutations.

3. Cerebellar atrophy is common among mitochondrial disorders.

4. Novel biallelic mutations in POLG gene: large deletion and missense variant associated with PEO.