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INV10 Genetic discovery and pathomechanisms of repeat disorders in neuromuscular diseases: lessons from RFC1

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S130-S130

Houlden, H.

2023

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Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

American journal of neuroradiology : AJNR, 2012-03, Vol.33 (3), p.407-414

2012

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Genome-wide estimate of the heritability of Multiple System Atrophy

Parkinsonism & related disorders, 2016-01, Vol.22, p.35-41

2016

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Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy

Acta neuropathologica communications, 2015-06, Vol.3 (1), p.39-39, Article 39

2015

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Exercise related kidney failure due to SLC2A9 homozygous mutation

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S43-S44

2017

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Impact of mitochondrial mutations on the metabolite-dependent epigenetic profile of human induced pluripotent stem cell derived myotubes

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S18-S18

2017

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The Cortical Basal ganglia Functional Scale (CBFS): Development and preliminary validation

Parkinsonism & related disorders, 2020-10, Vol.79, p.121-126

2020

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The utility of immunohistochemistry in the assessment of myopathies with tubular aggregates and cylindrical spirals

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S193-S194

2016

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Novel mutations in cathepsin D in juvenile onset neuronal ceroid lipofuscinosis

Journal of the neurological sciences, 2013-10, Vol.333, p.e81-e81

2013

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Novel mutation of the ntkr1 gene in a patient with hereditary sensory and autonomic neuropathy type iv phenotype

Journal of the neurological sciences, 2015-10, Vol.357, p.e348-e349

2015

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A 30-year history of MPAN case from Russia

Clinical neurology and neurosurgery, 2017-08, Vol.159, p.111-113

2017

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P50 Genetics of riboflavin channels

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S20-S20

2014

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Mitochondrial dysfunction in a treatable childhood neuronopathy

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S24-S25

2017

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Clinical features and genetic findings in patients with Charcot Marie Tooth Disease Type 2 (CMT2) due to LRSAM1 mutation

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S25-S25

2017

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Comprehensive genetic characterization of an Argentinian cohort with amyotrophic lateral sclerosis

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S31-S31

2017

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TPK1 mutations: unmasking a potentially treatable cause of Leigh-like syndrome

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S23-S23

2017

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P46 Functional investigation of a novel mutation causing a new phenotype for the KCNA1 gene

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S19-S19

2014

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Functional validation of non-coding variants of GJB1 in patients with CMTX1

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S25-S25

2017

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Next generation sequencing in inherited myopathies

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S42-S42

2017

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Improving genetic diagnosis and counselling for patients with myotoniacongenita

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S34-S34

2017

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Hereditory Sensory Neuropathy Type 1 ( SPTLC1 ): phenotypic variation in patients with the English founder mutation

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S26-S27

2017

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Glycogen storage disease type XV: A case report

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S221-S221

2015

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Neuropathological findings from a human post mortem case of distal hereditary motor neuropathy (dHMN) due to p.Ser135Phe HSPB1 mutation and transgenic mice with mutant or wild-type HSP27 overexpression

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S283-S283

2015

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Variable phenotypes are associated with PMP22 missense mutations

Neuromuscular disorders : NMD, 2011-02, Vol.21 (2), p.106-114

2011

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C9orf72 expansion in atypical parkinsonism

Journal of the neurological sciences, 2013-10, Vol.333, p.e669-e670

2013

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INV10 Genetic discovery and pathomechanisms of repeat disorders in neuromuscular diseases: lessons from RFC1

Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

Genome-wide estimate of the heritability of Multiple System Atrophy

Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy

Exercise related kidney failure due to SLC2A9 homozygous mutation

Impact of mitochondrial mutations on the metabolite-dependent epigenetic profile of human induced pluripotent stem cell derived myotubes

The Cortical Basal ganglia Functional Scale (CBFS): Development and preliminary validation

The utility of immunohistochemistry in the assessment of myopathies with tubular aggregates and cylindrical spirals

Novel mutations in cathepsin D in juvenile onset neuronal ceroid lipofuscinosis

Novel mutation of the ntkr1 gene in a patient with hereditary sensory and autonomic neuropathy type iv phenotype

A 30-year history of MPAN case from Russia

P50 Genetics of riboflavin channels

Mitochondrial dysfunction in a treatable childhood neuronopathy

Clinical features and genetic findings in patients with Charcot Marie Tooth Disease Type 2 (CMT2) due to LRSAM1 mutation

Comprehensive genetic characterization of an Argentinian cohort with amyotrophic lateral sclerosis

TPK1 mutations: unmasking a potentially treatable cause of Leigh-like syndrome

P46 Functional investigation of a novel mutation causing a new phenotype for the KCNA1 gene

Functional validation of non-coding variants of GJB1 in patients with CMTX1

Next generation sequencing in inherited myopathies

Improving genetic diagnosis and counselling for patients with myotoniacongenita

Hereditory Sensory Neuropathy Type 1 ( SPTLC1 ): phenotypic variation in patients with the English founder mutation

Glycogen storage disease type XV: A case report

Neuropathological findings from a human post mortem case of distal hereditary motor neuropathy (dHMN) due to p.Ser135Phe HSPB1 mutation and transgenic mice with mutant or wild-type HSP27 overexpression

Variable phenotypes are associated with PMP22 missense mutations

C9orf72 expansion in atypical parkinsonism

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