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James Y Garbern Selected Research

Proteins (Proteins, Gene)

12/2014Diffusion tensor imaging of patients with proteolipid protein 1 gene mutations.
10/2014PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.
2/2012Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders.
10/2009Neuronal loss in Pelizaeus-Merzbacher disease differs in various mutations of the proteolipid protein 1.
5/2009Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
1/2006Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.
12/2005Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
4/2005Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
2/2005Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system.
3/2002Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

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James Y Garbern Research Topics

Disease

8Pelizaeus-Merzbacher Disease
12/2014 - 02/2005
3Hereditary Spastic Paraplegia
02/2012 - 09/2004
2Canavan Disease (Leukodystrophy, Spongiform)
10/2011 - 10/2006
2Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
04/2009 - 10/2002
1Dementia (Dementias)
04/2012
1Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease)
04/2012
1Muscular Diseases (Myopathy)
04/2012
1Contracture
02/2012
1Deglutition Disorders (Dysphagia)
02/2012
12 Hypomyelinating Leukodystrophy
02/2012
1Paraplegia (Spastic Paraplegia)
02/2012
1Scoliosis
02/2012
1Seizures (Absence Seizure)
02/2012
1Autism Spectrum Disorder
05/2010
1Intellectual Disability (Idiocy)
05/2010
1Alzheimer Disease (Alzheimer's Disease)
05/2010
1Menkes Kinky Hair Syndrome (Menkes Disease)
03/2010
1Occipital horn syndrome
03/2010
1Inflammation (Inflammations)
03/2002
1Demyelinating Diseases (Demyelinating Disease)
03/2002

Drug/Important Bio-Agent (IBA)

10Proteins (Proteins, Gene)FDA Link
12/2014 - 03/2002
2ConnexinsIBA
02/2012 - 04/2009
2Gap Junction beta-1 ProteinIBA
04/2009 - 10/2002
1UbiquitinIBA
04/2012
1Acetates (Acetic Acid Esters)FDA Link
10/2011
1SodiumIBA
05/2010
1Protons (Proton)IBA
05/2010
1CopperIBA
03/2010
1P-type ATPasesIBA
03/2010
1N-acetylaspartate (N-acetyl aspartate)IBA
10/2006
1aspartoacylaseIBA
10/2006
1SpastinIBA
09/2004
1Myelin ProteinsIBA
03/2002

Therapy/Procedure

1Physical Therapy Modalities (Physical Therapy Technique)
02/2012
1Gastrostomy
02/2012
1Therapeutics
02/2012