Lista de obras - Mary G. Sweeney - Dominio Público Uruguay

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

artículo científico publicado en 2016

A family with Friedreich ataxia and onion-bulb formations at sural nerve biopsy

artículo científico publicado en 1999

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies ⬇️

artículo científico publicado el 1 de abril de 1992

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

artículo científico publicado en 2011

A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies

artículo científico publicado en 1993

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description

artículo científico publicado en 2010

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family

scientific article published on 01 February 2011

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

artículo científico publicado en 2014

Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia

artículo científico publicado en 2012

Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India.

artículo científico publicado en 2004

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

artículo científico publicado en 2009

Bilateral simultaneous optic neuropathy in adults: clinical, imaging, serological, and genetic studies

artículo científico publicado en 1995

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

artículo científico publicado en 2015

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

artículo científico publicado en 2014

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

artículo científico publicado en 2013

Call for participation in the neurogenetics consortium within the Human Variome Project

artículo científico publicado en 2011

Cardiac abnormalities in patients with Leber's hereditary optic neuropathy

artículo científico publicado en 2003

Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence

artículo científico publicado en 2008

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

artículo científico publicado en 2017

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

article

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

artículo científico publicado en 1995

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy

scientific journal article

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

artículo científico publicado en 2016

Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72

scientific article published on 01 May 1998

Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth

artículo científico publicado en 1995

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

artículo científico publicado el 5 de diciembre de 1992

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

scientific article published on 31 October 2019

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

artículo científico publicado en 2012

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

artículo científico publicado en 2018

Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency

artículo científico publicado en 2010

Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation

artículo científico publicado en 2007

Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism" [Neurobiol. Aging 36 (2015) 1221.e1-1221.e6].

artículo científico publicado en 2015

Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy ⬇️

artículo científico publicado el 1 de octubre de 1992

Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

artículo científico publicado en 1996

Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy

artículo científico publicado en 1992

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

artículo científico publicado en 2014

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

artículo científico publicado en 2015

Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion

article

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

artículo científico publicado en 2012

Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion

artículo científico publicado en 2012

Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

artículo científico publicado en 2012

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

scientific journal article

Huntington's disease phenocopies are clinically and genetically heterogeneous

artículo científico publicado en 2008

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.

artículo científico publicado en 2016

Increased risk of stroke in patients with the A12308G polymorphism in mitochondria

scientific article published on 01 December 2000

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

artículo científico publicado en 2014

Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study

scientific article published on 01 July 1995

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

artículo científico publicado en 2011

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.

artículo científico publicado en 2009

Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy ⬇️

artículo científico publicado el 1 de septiembre de 1992

MFN2 deletion of exons 7 and 8: founder mutation in the UK population

artículo científico publicado en 2015

Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members

artículo científico publicado en 2008

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.

artículo científico publicado en 1995

Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.

artículo científico publicado en 1994

Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy

artículo científico publicado en 1994

Mitochondrial DNA polymorphisms in pathologically proven Parkinson's disease

artículo científico publicado en 1997

Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy

scientific article published on 01 July 1993

Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption

artículo científico publicado en 2007

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples ⬇️

artículo científico publicado el 1 de junio de 1991

Mitochondrial gene defects in patients with NIDDM

artículo científico publicado en 1994

Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene

scientific article published on 01 November 1993

Multiple mitochondrial DNA deletions in monozygotic twins with OPMD

artículo científico publicado en 2007

Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration

artículo científico publicado en 1997

Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis

artículo científico publicado en 2002

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data

artículo científico publicado en 2005

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

artículo científico publicado en 2013

Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation

artículo científico publicado el 1 de agosto de 1992

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

artículo científico publicado en 2014

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

artículo científico publicado en 2014

Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).

artículo científico publicado en 2005

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation ⬇️

artículo científico publicado el 1 de julio de 1995

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

artículo científico publicado en 2014

Phenotypic variation of a new P0 mutation in genetically identical twins

artículo científico publicado en 1999

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

scientific article published on 31 July 2018

Prenatal diagnosis of mitochondrial DNA8993 T----G disease ⬇️

artículo científico publicado el 1 de marzo de 1992

Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study

artículo científico publicado en 2002

Pupillary dysfunction in an atypical case of mitochondrial myopathy with tubular aggregates

artículo científico publicado en 2010

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

artículo científico publicado en 2011

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

artículo científico publicado en 2014

Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.

artículo científico publicado en 2013

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

artículo científico publicado en 2003

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

artículo científico publicado en 2002

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

artículo científico publicado en 2005

Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita

artículo científico publicado en 2012

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

artículo científico publicado en 2015

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.

artículo científico publicado en 2013

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

scientific article published on 01 April 1995

The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness

artículo científico publicado en 2016

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA.

artículo científico publicado en 1993

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study

scientific article published on 01 June 1995

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study.

artículo científico publicado en 2011

The phenotypic manifestations of chromosome 17p11.2 duplication

artículo científico publicado en 1997

The role of interruptions in polyQ in the pathology of SCA1.

artículo científico publicado en 2013

The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates

artículo científico publicado en 1998

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias

artículo científico publicado en 1994

Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication ⬇️

artículo científico publicado el 16 de septiembre de 2003

Toward a mtDNA locus-specific mutation database using the LOVD platform

artículo científico publicado en 2012

Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.

artículo científico publicado en 2014

Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop

artículo científico publicado en 2015

Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis

artículo científico publicado en 2008

What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed

artículo científico publicado en 2008

Lista de obras de Mary G. Sweeney

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

A family with Friedreich ataxia and onion-bulb formations at sural nerve biopsy

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies ⬇️

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies

An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia

Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India.

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

Bilateral simultaneous optic neuropathy in adults: clinical, imaging, serological, and genetic studies

Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

Call for participation in the neurogenetics consortium within the Human Variome Project

Cardiac abnormalities in patients with Leber's hereditary optic neuropathy

Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17

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

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72

Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.

Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency

Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation

Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism" [Neurobiol. Aging 36 (2015) 1221.e1-1221.e6].

Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy ⬇️

Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.

Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

Extra-ocular muscle MRI in genetically-defined mitochondrial disease

Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion

Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene

Huntington's disease phenocopies are clinically and genetically heterogeneous

In vivo impact of presynaptic calcium channel dysfunction on motor axons in episodic ataxia type 2.

Increased risk of stroke in patients with the A12308G polymorphism in mitochondria

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.

Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy ⬇️

MFN2 deletion of exons 7 and 8: founder mutation in the UK population

Macular dystrophy associated with the A3243G mitochondrial DNA mutation. Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.

Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.

Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy

Mitochondrial DNA polymorphisms in pathologically proven Parkinson's disease

Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy

Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples ⬇️

Mitochondrial gene defects in patients with NIDDM

Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene

Multiple mitochondrial DNA deletions in monozygotic twins with OPMD

Multiple-system atrophy is genetically distinct from identified inherited causes of spinocerebellar degeneration

Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation ⬇️

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

Phenotypic variation of a new P0 mutation in genetically identical twins

PolyQ Tract Toxicity in SCA1 is Length Dependent in the Absence of CAG Repeat Interruption

Prenatal diagnosis of mitochondrial DNA8993 T----G disease ⬇️

Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study

Pupillary dysfunction in an atypical case of mitochondrial myopathy with tubular aggregates

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion