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Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication

PLoS genetics, 2015-03, Vol.11 (3), p.e1005050

2015

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Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1

Acta neuropathologica, 2009-10, Vol.118 (4), p.531-539

2009

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Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

Human molecular genetics, 2012-04, Vol.21 (8), p.1794-1807

2012

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Neuroradiologic correlates of clinical disability and progression in the X-Linked leukodystrophy Pelizaeus–Merzbacher disease

Journal of the neurological sciences, 2013-12, Vol.335 (1), p.75-81

2013

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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

American journal of human genetics, 2019-05, Vol.104 (5), p.925-935

2019

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Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders

Seminars in neurology, 2012-02, Vol.32 (1), p.62

2012

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Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease

Annals of neurology, 2002-10, Vol.52 (4), p.429-434

2002

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Hereditary motor and sensory neuropathies: a biological perspective

Lancet neurology, 2002-06, Vol.1 (2), p.110-118

2002

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Extensive aspartoacylase expression in the rat central nervous system

Glia, 2011-10, Vol.59 (10), p.1414-1434

2011

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Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia

Human molecular genetics, 2010-07, Vol.19 (14), p.2767-2779

2010

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PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing

Human molecular genetics, 2014-10, Vol.23 (20), p.5464-5478

2014

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A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

Brain (London, England : 1878), 2010-05, Vol.133 (5), p.1391-1402

2010

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Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

American journal of human genetics, 2010-03, Vol.86 (3), p.343-352

2010

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Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity

Journal of the neurological sciences, 2012-03, Vol.314 (1), p.130-137

2012

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Phenotypic clustering in MPZ mutations

Brain (London, England : 1878), 2004-02, Vol.127 (2), p.371-384

2004

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Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations

Journal of neuroscience research, 2014-12, Vol.92 (12), p.1723-1732

2014

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Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation

Brain (London, England : 1878), 2002-03, Vol.125 (Pt 3), p.551-561

2002

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Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

Human mutation, 2013-06, Vol.34 (6), p.860-863

2013

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Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin

Neuron (Cambridge, Mass.), 1997-07, Vol.19 (1), p.205-218

1997

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Persistent CNS dysfunction in a boy with CMT1X

Journal of the neurological sciences, 2009-04, Vol.279 (1), p.109-113

2009

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Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease

Brain (London, England : 1878), 2005-04, Vol.128 (4), p.743-751

2005

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Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination

American journal of human genetics, 2005-12, Vol.77 (6), p.966-987

2005

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Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice

Nature genetics, 1995-02, Vol.9 (2), p.191-196

1995

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Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1

Acta neuropathologica, 2009-10, Vol.118 (4), p.531-539

2009

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Aspartoacylase is a regulated nuclear-cytoplasmic enzyme

The FASEB journal, 2006-10, Vol.20 (12), p.2139-2141

2006

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Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication

Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1

Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

Neuroradiologic correlates of clinical disability and progression in the X-Linked leukodystrophy Pelizaeus–Merzbacher disease

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease

Hereditary motor and sensory neuropathies: a biological perspective

Extensive aspartoacylase expression in the rat central nervous system

Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia

PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): A misdiagnosed disease entity

Phenotypic clustering in MPZ mutations

Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations

Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation

Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

Proteolipid Protein Is Necessary in Peripheral as Well as Central Myelin

Persistent CNS dysfunction in a boy with CMT1X

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease

Heterogeneous Duplications in Patients with Pelizaeus-Merzbacher Disease Suggest a Mechanism of Coupled Homologous and Nonhomologous Recombination

Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice

Neuronal loss in Pelizaeus–Merzbacher disease differs in various mutations of the proteolipid protein 1

Aspartoacylase is a regulated nuclear-cytoplasmic enzyme

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