Literature DB >> 1463005

Mitochondrial genetics: principles and practice.

J M Shoffner, D C Wallace.   

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Year:  1992        PMID： 1463005      PMCID： PMC1682908     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  56 in total

1.  Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation.

Authors:  Y Goto; S Horai; T Matsuoka; Y Koga; K Nihei; M Kobayashi; I Nonaka
Journal:  Neurology       Date:  1992-03       Impact factor: 9.910

Review 2.  Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases.

Authors:  M D Brown; A S Voljavec; M T Lott; I MacDonald; D C Wallace
Journal:  FASEB J       Date:  1992-07       Impact factor: 5.191

3.  Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

Authors:  M D Brown; A S Voljavec; M T Lott; A Torroni; C C Yang; D C Wallace
Journal:  Genetics       Date:  1992-01       Impact factor: 4.562

4.  Cytochrome b mutations in Leber hereditary optic neuropathy.

Authors:  D R Johns; M J Neufeld
Journal:  Biochem Biophys Res Commun       Date:  1991-12-31       Impact factor: 3.575

5.  Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

Authors:  N Howell; L A Bindoff; D A McCullough; I Kubacka; J Poulton; D Mackey; L Taylor; D M Turnbull
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

6.  Paternal inheritance of mitochondrial DNA in mice.

Authors:  U Gyllensten; D Wharton; A Josefsson; A C Wilson
Journal:  Nature       Date:  1991-07-18       Impact factor: 49.962

7.  Bilateral optic neuropathy with remission in young men. Variation on a theme by Leber?

Authors:  S Lessell; R L Gise; G B Krohel
Journal:  Arch Neurol       Date:  1983-01

8.  Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

Authors:  N G Larsson; M H Tulinius; E Holme; A Oldfors; O Andersen; J Wahlström; J Aasly
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

9.  Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion.

Authors:  S W Ballinger; J M Shoffner; E V Hedaya; I Trounce; M A Polak; D A Koontz; D C Wallace
Journal:  Nat Genet       Date:  1992-04       Impact factor: 38.330

10.  A novel point mutation in the mitochondrial tRNA(Leu)(UUR) gene in a family with mitochondrial myopathy.

Authors:  Y Goto; M Tojo; J Tohyama; S Horai; I Nonaka
Journal:  Ann Neurol       Date:  1992-06       Impact factor: 10.422
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  19 in total

1.  Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA.

Authors:  P M Matthews; R M Brown; K Morten; D Marchington; J Poulton; G Brown
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

Review 2.  The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.

Authors:  A Chomyn
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

Review 3.  Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications.

Authors:  Martine Uittenbogaard; Anne Chiaramello
Journal:  Mol Genet Metab       Date:  2020-06-27       Impact factor: 4.797

Review 4.  Mitochondrial toxicity and HIV therapy.

Authors:  A J White
Journal:  Sex Transm Infect       Date:  2001-06       Impact factor: 3.519

5.  Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene.

Authors:  F C Mansergh; S Millington-Ward; A Kennan; A S Kiang; M Humphries; G J Farrar; P Humphries; P F Kenna
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

Review 6.  The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Authors:  Alessandro Orsini; Angelo Valetto; Veronica Bertini; Mariagrazia Esposito; Niccolò Carli; Berge A Minassian; Alice Bonuccelli; Diego Peroni; Roberto Michelucci; Pasquale Striano
Journal:  Seizure       Date:  2019-08-23       Impact factor: 3.184

Review 7.  Morphological studies of skeletal muscle in lactic acidosis.

Authors:  N B Romero; A Lombès; G Touati; O Rigal; P Frachon; M A Cheval; M Giraud; S Possekel; M Fardeau; H Ogier de Baulny
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

8.  Acceptability of carrier screening for cystic fibrosis during pregnancy in a German population.

Authors:  U Jung; U Urner; K Grade; C Coutelle
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

9.  Sequence variations of mitochondrial DNA D-loop region in patients with acute myeloid leukemia.

Authors:  Juan Zhou; Haimei Gou; Yuanxin Ye; Yi Zhou; Xiaojun Lu; Binwu Ying
Journal:  Oncol Lett       Date:  2017-09-18       Impact factor: 2.967

10.  Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.

Authors:  Judith Altmann; Boriana Büchner; Aleksandra Nadaj-Pakleza; Jochen Schäfer; Sandra Jackson; Diana Lehmann; Marcus Deschauer; Robert Kopajtich; Ronald Lautenschläger; Klaus A Kuhn; Kathrin Karle; Ludger Schöls; Jörg B Schulz; Joachim Weis; Holger Prokisch; Cornelia Kornblum; Kristl G Claeys; Thomas Klopstock
Journal:  J Neurol       Date:  2016-03-19       Impact factor: 4.849
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