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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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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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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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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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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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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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Effect of monthly intravenous cyclophosphamide in rapidly deteriorating multiple sclerosis patients resistant to conventional therapy

Multiple sclerosis, 2001-06, Vol.7 (3), p.185-188

2001

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Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system : The science of myelin

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

GARBERN, James Y

2005

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A prospective, open-label treatment trial to compare the effect of IFNβ-1a (Avonex®), IFNβ-1b (Betaseron®), and glatiramer acetate (Copaxone®) on the relapse rate in relapsing-remitting multiple sclerosis: results after 18 months of therapy

Multiple sclerosis, 2001-12, Vol.7 (6), p.349-353

2001

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A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene

Journal of the neurological sciences, 2004-09, Vol.224 (1), p.83-87

2004

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

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

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

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

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

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

Effect of monthly intravenous cyclophosphamide in rapidly deteriorating multiple sclerosis patients resistant to conventional therapy

Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system : The science of myelin

A prospective, open-label treatment trial to compare the effect of IFNβ-1a (Avonex®), IFNβ-1b (Betaseron®), and glatiramer acetate (Copaxone®) on the relapse rate in relapsing-remitting multiple sclerosis: results after 18 months of therapy

A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene

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