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CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Journal of neurology, neurosurgery and psychiatry, 2015-08, Vol.86 (8), p.873-878

2015

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SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies

Bioinformatics, 2010-11, Vol.26 (22), p.2803-2810

2010

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PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

Clinical genetics, 2017-11, Vol.92 (5), p.534-539

2017

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A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

Human molecular genetics, 2013-04, Vol.22 (7), p.1404-1416

2013

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Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia

Journal of medical genetics, 2010-09, Vol.47 (9), p.646-650

2010

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A Homozygous Reticulon 2 mutation is a cause of DHMN with pyramidal signs

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

2017

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Mechanisms of Disease: a molecular genetic update on hereditary axonal neuropathies

Nature clinical practice. Neurology, 2006-01, Vol.2 (1), p.45-53

2006

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Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments

Journal of the neurological sciences, 2017-01, Vol.372, p.347-349

2017

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SLITRK1 mutations in Trichotillomania

Molecular psychiatry, 2006-10, Vol.11 (10), p.888-889

2006

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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Nature communications, 2024-02, Vol.15 (1), p.1758-1758, Article 1758

2024

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Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum

European journal of neurology, 2014-03, Vol.21 (3), p.e25-e26

2014

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G.P.37

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.805-806

2014

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Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

Brain (London, England : 1878), 2009-07, Vol.132 (7), p.1741-1752

2009

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Linkage and Association Study of Late‐Onset Alzheimer Disease Families Linked to 9p21.3

Annals of human genetics, 2008-11, Vol.72 (6), p.725-731

2008

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Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.642-649

2003

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Multiple rare SAPAP3 missense variants in trichotillomania and OCD

Molecular psychiatry, 2009-01, Vol.14 (1), p.6-9

2009

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P57 IGHMBP2 mutations cause recessive axonal neuropathy: Genetic and functional characterisation in seven families

Neuromuscular disorders : NMD, 2014-03, Vol.24, p.S22-S22

2014

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Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

The New England journal of medicine, 2023-01, Vol.388 (2), p.128-141

2023

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P3.148 Common genetic variants at the 5′ end of vitamin D receptor (VDR) gene are associated with Parkinson disease (PD) susceptibility

Parkinsonism & related disorders, 2009, Vol.15, p.S186-S186

2009

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A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia‐like phenotype of Tangier disease

Brain (London, England : 1878), 2003-04, Vol.126 (4), p.920-927

2003

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Frequency of GAA-FGF14 ataxia in a large cohort of Brazilian patients with unsolved adult-onset cerebellar ataxia

Parkinsonism & related disorders, 2024-05, Vol.122, p.106157, Article 106157

2024

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Sleep stage dependant changes of the high-frequency part of the somatosensory evoked potentials at the thalamus and cortex

Clinical neurophysiology, 2000-12, Vol.111 (12), p.2277-2284

2000

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Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene

Neurology, 2004-05, Vol.62 (9), p.1522

2004

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P3.149 Rare deletion in the tyrosine hydroxylase gene contributes to Parkinson disease risk

Parkinsonism & related disorders, 2009, Vol.15, p.S186-S186

2009

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CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia

A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia

A Homozygous Reticulon 2 mutation is a cause of DHMN with pyramidal signs

Mechanisms of Disease: a molecular genetic update on hereditary axonal neuropathies

Exome sequencing reveals two FA2H mutations in a family with a complicated form of Hereditary Spastic Paraplegia and psychiatric impairments

SLITRK1 mutations in Trichotillomania

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum

G.P.37

Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy

Linkage and Association Study of Late‐Onset Alzheimer Disease Families Linked to 9p21.3

Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy

Multiple rare SAPAP3 missense variants in trichotillomania and OCD

P57 IGHMBP2 mutations cause recessive axonal neuropathy: Genetic and functional characterisation in seven families

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

P3.148 Common genetic variants at the 5′ end of vitamin D receptor (VDR) gene are associated with Parkinson disease (PD) susceptibility

A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia‐like phenotype of Tangier disease

Frequency of GAA-FGF14 ataxia in a large cohort of Brazilian patients with unsolved adult-onset cerebellar ataxia

Sleep stage dependant changes of the high-frequency part of the somatosensory evoked potentials at the thalamus and cortex

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene

P3.149 Rare deletion in the tyrosine hydroxylase gene contributes to Parkinson disease risk

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