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Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich’s ataxia

Cell death & disease, 2016-05, Vol.7 (5), p.e2237-e2237

2016

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Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3

Physiological genomics, 2004-02, Vol.16 (3), p.334-340

2004

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Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts

Gene therapy, 2016-12, Vol.23 (12), p.846-856

2016

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Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations

The Journal of clinical investigation, 1993-06, Vol.91 (6), p.2815-2821

1993

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Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies

The Journal of clinical investigation, 1993-06, Vol.91 (6), p.2351-2357

1993

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Identification of three novel frameshift mutations in patients with Friedreich's ataxia

Journal of medical genetics, 2000-11, Vol.37 (11), p.e38-38

2000

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Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22

Human molecular genetics, 1993-12, Vol.2 (12), p.2129-2134

1993

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Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of μ-calpain as the multiple endocrine neoplasia type 1 gene

Human genetics, 1996-06, Vol.97 (6), p.732-741

1996

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Localization of the Tamm‐Horsfall glycoprotein (unomodulin) gene to chromosome 16p12.3‐16p13.11

Annals of human genetics, 1993-10, Vol.57 (4), p.285-290

1993

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Exon–Intron Structure of a 2.7-kb Transcript of the STM7 Gene with Phosphatidylinositol-4-phosphate 5-Kinase Activity

Genomics (San Diego, Calif.), 1997-05, Vol.42 (1), p.170-172

1997

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The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase

Nature genetics, 1996-10, Vol.14 (2), p.157-162

1996

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Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis

Neurogenetics, 2001-10, Vol.3 (4), p.185-193

2001

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EagI and NotI linking clones from human chromosomes 11 and Xp

Human genetics, 1996-06, Vol.97 (6), p.742-749

1996

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GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

Genomics (San Diego, Calif.), 2006-11, Vol.88 (5), p.580-590

2006

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Characterization of an expressible nonclassical class I HLA gene

Human immunology, 1991-10, Vol.32 (2), p.102-109

1991

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Polymerase chain reaction analysis of transcriptional patterns of expression of class I HLA genes

Human immunology, 1991-11, Vol.32 (3), p.176-182

1991

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YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit

Human molecular genetics, 2002-05, Vol.11 (9), p.1075-1094

2002

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Friedreich's ataxia: a defect in signal transduction?

Human molecular genetics, 1995-08, Vol.4 (8), p.1411-1419

1995

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Molecular genetic mapping of the multiple endocrine neoplasia type 1 locus

Henry Ford Hospital medical journal, 1992, Vol.40 (3-4), p.162

1992

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The Friedreich's ataxia gene encodes a novel phosphatidylinositil-4-phosphate 5-kinase

Nature genetics, 1996, Vol.14 (2), p.157-162

1996

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Friedrich's ataxia : a defect in signal transduction ?

Human molecular genetics, 1995, Vol.4 (8), p.1411-1419

1995

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Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11g13, and exclusion of μ-calpain as the multiple endocrine neoplasia type 1 gene

Human genetics, 1996-06, Vol.97 (6), p.732-741

1996

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Intra-seasonal drivers of extreme heat over Australia in observations and POAMA-2

Climate dynamics, 2014-10, Vol.43 (7-8), p.1915-1937

2014

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Enzalutamide with Standard First-Line Therapy in Metastatic Prostate Cancer

The New England journal of medicine, 2019-07, Vol.381 (2), p.121-131

2019

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Simulation and prediction of blocking in the Australian region and its influence on intra-seasonal rainfall in POAMA-2

Climate dynamics, 2014-06, Vol.42 (11-12), p.3271-3288

2014

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Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich’s ataxia

Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3

Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts

Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies

Identification of three novel frameshift mutations in patients with Friedreich's ataxia

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22

Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of μ-calpain as the multiple endocrine neoplasia type 1 gene

Localization of the Tamm‐Horsfall glycoprotein (unomodulin) gene to chromosome 16p12.3‐16p13.11

Exon–Intron Structure of a 2.7-kb Transcript of the STM7 Gene with Phosphatidylinositol-4-phosphate 5-Kinase Activity

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis

EagI and NotI linking clones from human chromosomes 11 and Xp

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology

Characterization of an expressible nonclassical class I HLA gene

Polymerase chain reaction analysis of transcriptional patterns of expression of class I HLA genes

YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit

Friedreich's ataxia: a defect in signal transduction?

Molecular genetic mapping of the multiple endocrine neoplasia type 1 locus

The Friedreich's ataxia gene encodes a novel phosphatidylinositil-4-phosphate 5-kinase

Friedrich's ataxia : a defect in signal transduction ?

Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11g13, and exclusion of μ-calpain as the multiple endocrine neoplasia type 1 gene

Intra-seasonal drivers of extreme heat over Australia in observations and POAMA-2

Enzalutamide with Standard First-Line Therapy in Metastatic Prostate Cancer

Simulation and prediction of blocking in the Australian region and its influence on intra-seasonal rainfall in POAMA-2

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