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Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE)

Practical neurology, 2021-02, Vol.21 (1), p.43-47

Hammans, Simon R

2021

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HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype

Neuromuscular disorders : NMD, 2024-01, Vol.34, p.27-31

2024

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New neuropathological findings in Unverricht–Lundborg disease: neuronal intranuclear and cytoplasmic inclusions

Acta neuropathologica, 2011-03, Vol.121 (3), p.421-427

2011

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Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Brain (London, England : 1878), 2015-10, Vol.138 (Pt 10), p.2847-2858

2015

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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Nature genetics, 2012-03, Vol.44 (3), p.338-342

2012

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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN

Neurology, 2013-01, Vol.80 (3), p.268-275

2013

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Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI

Neuromuscular disorders : NMD, 2021-03, Vol.31 (3), p.249-252

2021

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ADCY5-related dyskinesia presenting as familial myoclonus-dystonia

Neurogenetics, 2017-04, Vol.18 (2), p.111-117

2017

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Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Human mutation, 2013-09, Vol.34 (9), p.1260-1268

2013

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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

Scientific reports, 2015-05, Vol.5 (1), p.10042-10042, Article 10042

2015

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Oculopharyngeal muscular dystrophy (opmd): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism

Human genetics, 2005-03, Vol.116 (4), p.267-271

2005

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Practical Guide to Neurogenetics

1, 2008

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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Nature communications, 2022-04, Vol.13 (1), p.2306-18, Article 2306

2022

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

Nature genetics, 1993-05, Vol.4 (1), p.67-71

1993

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Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Human mutation, 2013-09, Vol.34 (9), p.1260-1268

2013

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Oculopharyngeal muscular dystrophy : Phenotypic and genotypic studies in a UK population

Brain (London, England : 1878), 2001-03, Vol.124 (Pt 3), p.522-526

2001

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HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype

Neuromuscular disorders : NMD, 2024, Vol.34, p.27-31

2024

Volltextzugriff (PDF)

Oculopharyngeal muscular dystrophy

Human genetics, 2005-03, Vol.116 (4), p.267

2005

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

Biochimica et biophysica acta, 1995-05, Vol.1271 (1), p.135-140

1995

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Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI

Neuromuscular disorders : NMD, 2021, Vol.31 (3), p.249-252

2021

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Epilepsy

Practical Guide to Neurogenetics, 2009, p.38-48

First Edition, 2009

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Mitochondrial DNA and disease

Essays in biochemistry, 1994, Vol.28, p.99

Hammans, S R

1994

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Muscle Disease

Practical Guide to Neurogenetics, 2009, p.197-228

First Edition, 2009

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Motor Neuron Diseases

Practical Guide to Neurogenetics, 2009, p.150-174

First Edition, 2009

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Cerebrovascular Disease

Practical Guide to Neurogenetics, 2009, p.137-149

First Edition, 2009

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Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE)

HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype

New neuropathological findings in Unverricht–Lundborg disease: neuronal intranuclear and cytoplasmic inclusions

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN

Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

Oculopharyngeal muscular dystrophy (opmd): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism

Practical Guide to Neurogenetics

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

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

Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Oculopharyngeal muscular dystrophy : Phenotypic and genotypic studies in a UK population

HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype

Oculopharyngeal muscular dystrophy

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

Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI

Epilepsy

Mitochondrial DNA and disease

Muscle Disease

Motor Neuron Diseases

Cerebrovascular Disease

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