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

Journal of medical genetics, 2009-11, Vol.46 (11), p.786-791

2009

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Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

JAMA neurology, 2016-12, Vol.73 (12), p.1433

2016

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Allgrove or 4 “A” syndrome: an autosomal recessive syndrome causing multisystem neurological disease

Journal of neurology, neurosurgery and psychiatry, 2003-05, Vol.74 (5), p.654-657

2003

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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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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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Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay

Neurology, 2010-04, Vol.74 (14), p.1152-1154

2010

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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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Calpainopathy presenting as foot drop in a 41 year old

Neuromuscular disorders : NMD, 2010-06, Vol.20 (6), p.407-410

2010

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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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X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?

Journal of neurology, neurosurgery and psychiatry, 2001-01, Vol.70 (1), p.65-69

2001

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The inherited ataxias and the new genetics

Journal of neurology, neurosurgery and psychiatry, 1996-10, Vol.61 (4), p.327-332

Hammans, S R

1996

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Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

The Lancet (British edition), 1991-06, Vol.337 (8753), p.1311-1313

1991

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The messenger RNAs for the N-methyl- d-aspartate receptor subunits show region-specific expression of different subunit composition in the human brain

Neuroscience, 1996-07, Vol.73 (2), p.429-447

1996

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The Impact of Risk-Aversion and Stress on the Incentive Effect of Performance-Pay

Experiments in Organizational Economics, 2017, Vol.19, p.189-227

2017

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Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)

Journal of inherited metabolic disease, 2002-11, Vol.25 (7), p.603-604

2002

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Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation

Journal of medical genetics, 2006-05, Vol.43 (5), p.e23-e23

2006

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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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Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich’s ataxia

Journal of neurology, neurosurgery and psychiatry, 1998-03, Vol.64 (3), p.368-370

1998

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

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

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

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

Allgrove or 4 “A” syndrome: an autosomal recessive syndrome causing multisystem neurological disease

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

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

Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay

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

Calpainopathy presenting as foot drop in a 41 year old

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

X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?

The inherited ataxias and the new genetics

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

The messenger RNAs for the N-methyl- d-aspartate receptor subunits show region-specific expression of different subunit composition in the human brain

The Impact of Risk-Aversion and Stress on the Incentive Effect of Performance-Pay

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)

Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation

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

Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich’s ataxia

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