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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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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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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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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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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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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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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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Aspartoacylase is a regulated nuclear-cytoplasmic enzyme

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

2006

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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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Deficits in stepping response time are associated with impairments in balance and mobility in people with Huntington disease

Journal of the neurological sciences, 2010-11, Vol.298 (1), p.91-95

2010

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Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations

Annals of the New York Academy of Sciences, 1999-10, Vol.883 (1), p.351-365

1999

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Pelizaeus–Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system

Journal of the neurological sciences, 2005-02, Vol.228 (2), p.201-203

Garbern, James Y.

2005

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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.62-67

2012

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Maintenance of the relative proportion of oligodendrocytes to axons even in the absence of BAX and BAK

The European journal of neuroscience, 2009-12, Vol.30 (11), p.2030-2041

2009

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Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

Neurogenetics, 2004-09, Vol.5 (3), p.157-164

2004

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Plexiform-like neurofibromas develop in the mouse by intraneural xenograft of an NF1 tumor-derived Schwann cell line

Journal of neuroscience research, 2007-05, Vol.85 (6), p.1347-1357

2007

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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

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

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

Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations

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

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

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

Aspartoacylase is a regulated nuclear-cytoplasmic enzyme

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

Deficits in stepping response time are associated with impairments in balance and mobility in people with Huntington disease

Peripheral Neuropathy Caused by Proteolipid Protein Gene Mutations

Pelizaeus–Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system

Pelizaeus-Merzbacher Disease, Pelizaeus-Merzbacher-Like Disease 1, and Related Hypomyelinating Disorders

Maintenance of the relative proportion of oligodendrocytes to axons even in the absence of BAX and BAK

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

Plexiform-like neurofibromas develop in the mouse by intraneural xenograft of an NF1 tumor-derived Schwann cell line

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