Literature DB >> 10787310

Morphological abnormalities of hepatic mitochondria in two patients with spinocerebellar ataxia type 7.

G Modi.   

Abstract

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Year:  2000        PMID： 10787310      PMCID： PMC1736806          DOI： 10.1136/jnnp.68.3.393

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  3 in total

1.  Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.

Authors:  Jacqueline M Ward; Colleen A Stoyas; Pawel M Switonski; Farid Ichou; Weiwei Fan; Brett Collins; Christopher E Wall; Isaac Adanyeguh; Chenchen Niu; Bryce L Sopher; Chizuru Kinoshita; Richard S Morrison; Alexandra Durr; Alysson R Muotri; Ronald M Evans; Fanny Mochel; Albert R La Spada
Journal:  Cell Rep       Date:  2019-01-29       Impact factor: 9.423

Review 2.  The Molecular Basis of Spinocerebellar Ataxia Type 7.

Authors:  Rituparna Goswami; Abudu I Bello; Joe Bean; Kara M Costanzo; Bwaar Omer; Dayanne Cornelio-Parra; Revan Odah; Amit Ahluwalia; Shefaa K Allan; Nghi Nguyen; Taylor Shores; N Ahmad Aziz; Ryan D Mohan
Journal:  Front Neurosci       Date:  2022-03-24       Impact factor: 4.677

3.  Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline.

Authors:  Siddharth Nath; Nicholas S Caron; Linda May; Oxana B Gluscencova; Jill Kolesar; Lauren Brady; Brett A Kaufman; Gabrielle L Boulianne; Amadeo R Rodriguez; Mark A Tarnopolsky; Ray Truant
Journal:  Hum Genome Var       Date:  2022-04-14
  3 in total

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