(Q35791191)

10 August 2017

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title

Neurodegenerative disorders associated with diabetes mellitus (English)

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10 August 2017

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1

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10 August 2017

3 June 2004

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Journal of Molecular Medicine

10 August 2017

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10 August 2017

82

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10 August 2017

510-529

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10 August 2017

8

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https://scigraph.springernature.com/pub.10.1007/s00109-004-0552-1

10 August 2017

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cites work

The relationship between diabetes mellitus and Parkinson's disease

1 reference

12 December 2020

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

1 reference

12 December 2020

Islet amyloid formation associated with hyperglycemia in transgenic mice with pancreatic beta cell expression of human islet amyloid polypeptide.

1 reference

12 December 2020

Study of Fatal Cases of Friedreich's Ataxia

1 reference

12 December 2020

Increased insulin secretion and glucose tolerance in mice lacking islet amyloid polypeptide (amylin).

1 reference

12 December 2020

Non-insulin dependent diabetes mellitus in a prepubertal child with Prader-Willi syndrome

1 reference

12 December 2020

The many substrates and functions of ATM

1 reference

12 December 2020

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma

1 reference

12 December 2020

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

1 reference

12 December 2020

Mitochondrial oxidative phosphorylation defects in Parkinson's disease

1 reference

12 December 2020

A structural approach to understanding the iron-binding properties of phylogenetically different frataxins.

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12 December 2020

Insulin-resistant diabetes mellitus in a black woman with ataxia-telangiectasia.

1 reference

12 December 2020

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)

1 reference

12 December 2020

Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

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12 December 2020

Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys)

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12 December 2020

Spontaneous diabetes mellitus in transgenic mice expressing human islet amyloid polypeptide

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12 December 2020

Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: a new syndrome?

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12 December 2020

Hypothalamic orexin neurons regulate arousal according to energy balance in mice

1 reference

12 December 2020

Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy

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12 December 2020

Woodhouse and Sakati syndrome (MIM 241080): report of a new patient

1 reference

12 December 2020

Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome.

1 reference

12 December 2020

Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany

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12 December 2020

Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diabetes mellitus provisional report of a WHO consultation

1 reference

12 December 2020

Association of an interleukin 1B gene polymorphism (-511) with Parkinson's disease in Finnish patients

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12 December 2020

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

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12 December 2020

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome

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12 December 2020

An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.

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12 December 2020

[Neurologic complications in a case of Werner syndrome]

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12 December 2020

Ghrelin induces adiposity in rodents

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12 December 2020

Werner's syndrome associated with spastic paraparesis and peripheral neuropathy

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12 December 2020

Breast and other cancers in families with ataxia-telangiectasia

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12 December 2020

A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2.

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12 December 2020

Attenuated defense response and low basal blood pressure in orexin knockout mice

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12 December 2020

The Werner mutation: does it lead to a "public" or "private" mechanism of aging?

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12 December 2020

The yeast frataxin homologue mediates mitochondrial iron efflux. Evidence for a mitochondrial iron cycle

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12 December 2020

Intermediate expansions of a X25/frataxin gene GAA repeat and Type II diabetes: assessment using parent-offspring trios

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12 December 2020

Hyperinsulinaemia and Alzheimer's disease.

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12 December 2020

Diabetes mellitus in Huntington disease

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12 December 2020

Werner's syndrome: metabolic observations

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12 December 2020

Accelerated aging of the brain in Werner's syndrome

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12 December 2020

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

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12 December 2020

Glucose metabolism alterations in Friedreich's ataxia

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12 December 2020

Extreme insulin resistance in ataxia telangiectasia: defect in affinity of insulin receptors

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12 December 2020

Troglitazone ameliorates insulin resistance in patients with Werner's syndrome

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12 December 2020

Initiation and Synergistic Fibrillization of Tau and Alpha-Synuclein

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12 December 2020

Altered metabolism of the amyloid beta precursor protein is associated with mitochondrial dysfunction in Down's syndrome

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12 December 2020

Progeria and Werner's syndrome as models for the study of normal human aging

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12 December 2020

Altered beta-cell characteristics in impaired glucose tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene

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12 December 2020

Hypocretin (orexin) deficiency in human narcolepsy.

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12 December 2020

Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans.

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12 December 2020

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

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12 December 2020

Reduced cerebral glucose metabolism in asymptomatic subjects at risk for Huntington's disease

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12 December 2020

Complete genomic screen in Parkinson disease: evidence for multiple genes.

1 reference

12 December 2020

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

1 reference

12 December 2020

Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain

1 reference

12 December 2020

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel

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12 December 2020

Mitochondrial mutation in fatal infantile cardiomyopathy

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12 December 2020

Study of somatic chromosomes from 9 mongoloid children

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12 December 2020

Primary small bowel ganglioneuroblastoma and Friedreich's ataxia.

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12 December 2020

Insulin-degrading enzyme regulates the levels of insulin, amyloid beta-protein, and the beta-amyloid precursor protein intracellular domain in vivo

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12 December 2020

DIDMOAD or Wolfram syndrome. A mitochondrial-mediated disorder

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12 December 2020

Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

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12 December 2020

THE RELATION OE DIABETES MELLITUS TO LESIONS OF THE PANCREAS. HYALINE DEGENERATION OF THE ISLANDS OE LANGERHANS.

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12 December 2020

Crystal structure of HLA-DQ0602 that protects against type 1 diabetes and confers strong susceptibility to narcolepsy

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12 December 2020

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

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12 December 2020

Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo

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12 December 2020

Alzheimer's disease: one disorder, too many genes?

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12 December 2020

Increased body-mass index in patients with narcolepsy.

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12 December 2020

Mutant protein in Huntington disease is resistant to proteolysis in affected brain

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12 December 2020

Narcolepsy in orexin knockout mice: molecular genetics of sleep regulation

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12 December 2020

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

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12 December 2020

Skeletal muscle metabolism in myotonic dystrophy A 31P magnetic resonance spectroscopy study.

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12 December 2020

Pleiotropic defects in ataxia-telangiectasia protein-deficient mice

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12 December 2020

Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu(UUR) gene mutation

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12 December 2020

Isolation and characterization of a candidate gene for Norrie disease

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12 December 2020

Nonlinear decrease over time in N-acetyl aspartate levels in the absence of neuronal loss and increases in glutamine and glucose in transgenic Huntington's disease mice.

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12 December 2020

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

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12 December 2020

Genetics of Parkinson's disease

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12 December 2020

Decreased insulin secretion in type 2 diabetes: a problem of cellular mass or function?

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12 December 2020

Frataxin deficiency in pancreatic islets causes diabetes due to loss of beta cell mass

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12 December 2020

Klinefelter's syndrome, a clinical and cytogenetic study in twenty-four cases

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12 December 2020

Mitochondrial diabetes mellitus: a review

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12 December 2020

Fine Structure of Spermatogenesis in Klinefelter's Syndrome

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12 December 2020

Early-onset liver disease complicated with acute liver failure in Alstrom syndrome

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12 December 2020

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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12 December 2020

Strong association between N-acetyltransferase 2 genotype and PD in Hong Kong Chinese

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12 December 2020

Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome

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12 December 2020

Thiamine-responsive megaloblastic anemia

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12 December 2020

A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases

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12 December 2020

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

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12 December 2020

Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases

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12 December 2020

Myotonic dystrophy associated with hereditary motor and sensory neuropathy.

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12 December 2020

Nonketotic diabetes mellitus: insulin deficiency or insulin resistance?

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12 December 2020

THE SYNDROMES OF OBESITY AND OF DELAYED GROWTH IN ADOLESCENCE.

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12 December 2020

A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities

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12 December 2020

Amyloid plaque core protein in Alzheimer disease and Down syndrome

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12 December 2020

Cardiac findings in Werner's syndrome

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12 December 2020

A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers

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12 December 2020

Increased frequency of non-insulin-dependent diabetes mellitus among narcoleptic patients.

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12 December 2020

Complex I defect in muscle from patients with Huntington's disease.

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12 December 2020

Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes

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12 December 2020

Extensive islet amyloid formation is induced by development of Type II diabetes mellitus and contributes to its progression: pathogenesis of diabetes in a mouse model

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12 December 2020

Banting Lecture. Insulin action, diabetogenes, and the cause of type II diabetes

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12 December 2020

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice.

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12 December 2020

Islet amyloid polypeptide: identification and chromosomal localization of the human gene

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12 December 2020

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

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12 December 2020

Increased risk of type 2 diabetes in Alzheimer disease

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12 December 2020

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

1 reference

12 December 2020

[Adrenogenital syndrome, adrenogenital salt deficiency syndrome and Cushing's syndrome in childhood]

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12 December 2020

Turnerʼs syndrome and carbohydrate metabolism. I. Impaired insulin secretion after tolbutamide and glucagon stimulation tests

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12 December 2020

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

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12 December 2020

Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease

1 reference

12 December 2020

Genetic and environmental factors in the cause of Parkinson's disease

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12 December 2020

An unusual form of diabetes mellitus in ataxia telangiectasia

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12 December 2020

Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians

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12 December 2020

Mitochondrial diabetes: investigation and identification of a novel mutation

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12 December 2020

Klinefelter's Syndrome, Dizygotic Twinning and Diabetes Mellitus

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12 December 2020

Physical evidence that yeast frataxin is an iron storage protein

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12 December 2020

No association between the Friedreich's ataxia gene and NIDDM in the French population

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12 December 2020

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations

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12 December 2020

Friedreich's ataxia and iron metabolism

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12 December 2020

The frequency of diabetes mellitus in patients with Turner's syndrome and pure gonadal dysgenesis. Blood glucose, plasma insulin and growth hormone level during an oral glucose tolerance test

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12 December 2020

Frataxin activates mitochondrial energy conversion and oxidative phosphorylation

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12 December 2020

An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene

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12 December 2020

Disabled early recruitment of antioxidant defenses in Friedreich's ataxia

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12 December 2020

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

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12 December 2020

Incidence of cancer in 161 families affected by ataxia-telangiectasia

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12 December 2020

Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase

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12 December 2020

All patients with Werner's syndrome are insulin resistant, but only those who also have impaired insulin secretion develop overt diabetes

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12 December 2020

Isolation of a candidate gene for Norrie disease by positional cloning

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12 December 2020

Positional cloning of the Werner's syndrome gene

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12 December 2020

Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice

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12 December 2020

Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

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12 December 2020

Myotonic dystrophy kinase is a component of neuromuscular junctions

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12 December 2020

Neurological involvement in Werner's syndrome: clinical and biopsy study of a familial case

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12 December 2020

A genome-wide search for type II diabetes susceptibility genes in Chinese Hans

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12 December 2020

Transgenic overexpression of human islet amyloid polypeptide inhibits insulin secretion and glucose elimination after gastric glucose gavage in mice.

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12 December 2020

Higher sedentary energy expenditure in patients with Huntington's disease

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12 December 2020

Cloning, characterization, and properties of seven triplet repeat DNA sequences.

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12 December 2020

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes.

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12 December 2020

Nucleotide excision repair affects the stability of long transcribed (CTG*CAG) tracts in an orientation-dependent manner in Escherichia coli

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12 December 2020

Huntington's disease of the endocrine pancreas: insulin deficiency and diabetes mellitus due to impaired insulin gene expression

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12 December 2020

The sleep disorder canine narcolepsy is caused by a mutation in the hypocretin (orexin) receptor 2 gene

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12 December 2020

Global and societal implications of the diabetes epidemic

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12 December 2020

Increased frequency of diabetes mellitus in patients with Huntington's chorea

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12 December 2020

Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes

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12 December 2020

The hypocretins: hypothalamus-specific peptides with neuroexcitatory activity

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12 December 2020

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

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12 December 2020

Defective electron transfer in complexes I and IV in patients with aceruloplasminemia

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12 December 2020

Crystal structure of human frataxin

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12 December 2020

Ataxia, telangiectasia, and sinopulmonary infections; a syndrome of slowly progressive deterioration in childhood

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12 December 2020

Beta-cell deficit and increased beta-cell apoptosis in humans with type 2 diabetes

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12 December 2020

Quantitative analysis by 31P magnetic resonance spectroscopy of abnormal mitochondrial oxidation in skeletal muscle during recovery from exercise

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12 December 2020

A mouse model for Prader-Willi syndrome imprinting-centre mutations

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12 December 2020

Recessively inherited deficiencies predisposing to cancer

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12 December 2020

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

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12 December 2020

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

1 reference

12 December 2020

Type 2 diabetes mellitus: not quite exciting enough?

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12 December 2020

Carbohydrate metabolism in Klinefelter's syndrome

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12 December 2020

Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs

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12 December 2020

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

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12 December 2020

Norie's disease (atrofia bulborum hereditaria).

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12 December 2020

Mutations in the WRN gene in mice accelerate mortality in a p53-null background

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12 December 2020

Reduced number of hypocretin neurons in human narcolepsy

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12 December 2020

Diabetes mellitus in Friedreich's ataxia

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12 December 2020

Production of homoplasmic xenomitochondrial mice

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12 December 2020

Cardiac aspects of Friedreich's ataxia

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12 December 2020

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12 December 2020

Insulin increases CSF Abeta42 levels in normal older adults

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12 December 2020

Mitochondrial dysfunction, apoptotic cell death, and Alzheimer's disease

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12 December 2020

The oligogenic properties of Bardet-Biedl syndrome

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12 December 2020

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member

1 reference

12 December 2020

Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein.

1 reference

12 December 2020

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

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12 December 2020

A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene.

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12 December 2020

Mitochondrial dysfunction in the elderly: possible role in insulin resistance

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12 December 2020

An autosomal genomic scan for loci linked to prediabetic phenotypes in Pima Indians

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12 December 2020

Mice transgenic for an expanded CAG repeat in the Huntington's disease gene develop diabetes

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12 December 2020

Diabetes secondary to genetic disorders

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12 December 2020

Congestive cardiomyopathy in Werner's syndrome

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12 December 2020

Psychiatric disorders in 36 families with Wolfram syndrome

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12 December 2020

Increased levels of plasma malondialdehyde in Friedreich ataxia

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12 December 2020

LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration.

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12 December 2020

Dysfunction of mitochondria in human skeletal muscle in type 2 diabetes

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12 December 2020

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis

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12 December 2020

Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based study.

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12 December 2020

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

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12 December 2020

Carbohydrate metabolism and pituitary function in gonadal dysgenesis (Turner's syndrome)

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12 December 2020

Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

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12 December 2020

Glucose intolerance in Friedreich's ataxia: association with insulin resistance and decreased insulin binding.

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12 December 2020

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12 December 2020

Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.

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12 December 2020

EARLY-ONSET DIABETES MELLITUS IN THE GENERAL AND DOWN'S SYNDROME POPULATIONS

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12 December 2020

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

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12 December 2020

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

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12 December 2020

Abnormalities in the functioning of adipocytes from R6/2 mice that are transgenic for the Huntington's disease mutation

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12 December 2020

Increased lipid peroxidation and mitochondrial dysfunction in aceruloplasminemia brains

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12 December 2020

Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study

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12 December 2020

Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain

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12 December 2020

Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus

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12 December 2020

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

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12 December 2020

Islet amyloid and type 2 diabetes mellitus

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12 December 2020

Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome.

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12 December 2020

Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA(LEU(UUR)) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)

1 reference

12 December 2020

Diabetes mellitus in ataxia-telangiectasia, Fanconi anemia, xeroderma pigmentosum, common variable immune deficiency, and severe combined immune deficiency families

1 reference

12 December 2020

Familial progressive external ophthalmoplegia and ragged-red fibers

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12 December 2020

Isolation of a candidate gene for Norrie disease by positional cloning

1 reference

12 December 2020

Characterization of alterations in glucose and insulin metabolism in Prader-Willi subjects.

1 reference

12 December 2020

Insulin resistance and obesity

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12 December 2020

Myotonic dystrophy. A reassessment by conventional and more recently introduced neurophysiological techniques.

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12 December 2020

Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease

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12 December 2020

Normal insulin receptors in mitochondrial myopathies with ophthalmoplegia

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12 December 2020

Reduced leptin levels in human narcolepsy

1 reference

12 December 2020

Mitochondrial enzyme deficiencies in Down's syndrome

1 reference

12 December 2020

A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains

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12 December 2020

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

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12 December 2020

LMNA mutations in atypical Werner's syndrome

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12 December 2020

PRADER-WILLI SYNDROME IN BOY OF TEN WITH PREDIABETES.

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12 December 2020

Mitochondrial intermediate peptidase and the yeast frataxin homolog together maintain mitochondrial iron homeostasis in Saccharomyces cerevisiae

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12 December 2020

Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: A new syndrome?

1 reference

12 December 2020

Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes.

1 reference

12 December 2020

THE SYNDROME OF NARCOLEPSY AND DIABETOGENIC (FUNCTIONAL) HYPERINSULINISM. OBSERVATIONS ON 190 PATIENTS, WITH EMPHASIS UPON ITS RELATIONSHIP TO OBESITY, DIABETES MELLITUS AND CEREBRAL DYSRHYTHMIAS

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12 December 2020

Insulin and cognitive function in an elderly population. The Rotterdam Study.

1 reference

12 December 2020

Risk of dementia among persons with diabetes mellitus: a population-based cohort study

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12 December 2020

Diabetes and the nervous system

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12 December 2020

An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1.

1 reference

12 December 2020

Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity

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12 December 2020

Gastric carcinoma in siblings with Friedreich's ataxia

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12 December 2020

HEREDITARY PHOTOMYOCLONUS ASSOCIATED WITH DIABETES MELLITUS, DEAFNESS, NEPHROPATHY, AND CEREBRAL DYSFUNCTION.

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12 December 2020

Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy

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12 December 2020

Plasma insulin in patients with myotonic dystrophy and their relatives

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12 December 2020

Atm-deficient mice: a paradigm of ataxia telangiectasia

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12 December 2020

Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2.

1 reference

12 December 2020

Importance of maternal history of non-insulin dependent diabetic patients

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12 December 2020

Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo.

1 reference

12 December 2020

Increased oxidative damage to DNA in a transgenic mouse model of Huntington's disease

1 reference

12 December 2020

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

1 reference

12 December 2020

Multiple signaling pathways involving ATM.

1 reference

12 December 2020

Mitochondrial genetics: principles and practice

1 reference

12 December 2020

Autosomal dominant cerebellar ataxia deafness and narcolepsy.

1 reference

12 December 2020

Components involved in assembly and dislocation of iron-sulfur clusters on the scaffold protein Isu1p

1 reference

12 December 2020

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

1 reference

12 December 2020

Mitochondrial dysfunction in idiopathic Parkinson disease

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12 December 2020

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

1 reference

12 December 2020

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

1 reference

12 December 2020

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

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12 December 2020

Diabetic neuropathies

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12 December 2020

Iron-dependent self-assembly of recombinant yeast frataxin: implications for Friedreich ataxia

1 reference

12 December 2020

Stimulus-secretion coupling in pancreatic beta cells.

1 reference

12 December 2020

Intermediate expansions of a GAA repeat in the frataxin gene are not associated with type 2 diabetes or altered glucose-induced beta-cell function in Danish Caucasians.

1 reference

12 December 2020

Brain involvement in myotonic dystrophy: MRI features and their relationship to clinical and cognitive conditions

1 reference

12 December 2020

Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome

1 reference

12 December 2020

The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins

1 reference

12 December 2020

Coordinated patterns of gene expression for substrate and energy metabolism in skeletal muscle of diabetic mice

1 reference

12 December 2020

Coordinated reduction of genes of oxidative metabolism in humans with insulin resistance and diabetes: Potential role of PGC1 and NRF1

1 reference

12 December 2020

Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro

1 reference

12 December 2020

An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy

1 reference

12 December 2020

Mitochondrial dysfunction and Down's syndrome.

1 reference

12 December 2020

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

1 reference

12 December 2020

High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome

1 reference

12 December 2020

Diabetes mellitus and the risk of dementia: The Rotterdam Study.

1 reference

12 December 2020

Oxidative stress in patients with Friedreich ataxia.

1 reference

12 December 2020

Acquired and inherited lipodystrophies

1 reference

12 December 2020

The specific mitochondrial DNA polymorphism found in Klinefelter's syndrome

1 reference

12 December 2020

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness

1 reference

12 December 2020

Breast cancer in two sisters with Friedreich's ataxia

1 reference

12 December 2020

Predisposition of Wolfram syndrome heterozygotes to psychiatric illness.

1 reference

12 December 2020

Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance

1 reference

12 December 2020

Primary and secondary defects of the mitochondrial respiratory chain

1 reference

12 December 2020

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

12 December 2020

Cholesterol and the biology of Alzheimer's disease.

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12 December 2020

New insights into Parkinson?s disease

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12 December 2020

Abnormal Glucose Tolerance and Arginine Tolerance Tests in Huntington’s Disease

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12 December 2020

Observations concerning the diabetes mellitus associated with Werner's syndrome

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12 December 2020

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease

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12 December 2020

Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium

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12 December 2020

Characterization of progressive motor deficits in mice transgenic for the human Huntington's disease mutation.

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12 December 2020

DNA vaccination against mutant huntingtin ameliorates the HDR6/2 diabetic phenotype.

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12 December 2020

10.1007/S00109-004-0552-1

Identifiers

DOI

1 reference

10 August 2017

1 reference

PubMed ID

15175861