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Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA)

Journal of neurology, neurosurgery and psychiatry, 2020-10, Vol.91 (10), p.1085-1091

2020

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Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment

Current opinion in neurology, 2020-10, Vol.33 (5), p.629-634

2020

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Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4

Annals of neurology, 2020-04, Vol.87 (4), p.547-555

2020

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Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy

Neuron (Cambridge, Mass.), 2009-08, Vol.63 (3), p.316-328

2009

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Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease

Neurobiology of disease, 2022-10, Vol.172, p.105832-105832, Article 105832

2022

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Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial

Lancet neurology, 2007-10, Vol.6 (10), p.878-886

2007

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Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion

The Journal of neuroscience, 2017-05, Vol.37 (21), p.5309-5318

2017

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AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia

Neurobiology of disease, 2024-08, Vol.198, p.106537, Article 106537

2024

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Spinal and Bulbar Muscular Atrophy

Neurologic clinics, 2015-11, Vol.33 (4), p.847-854

2015

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CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy

Neurobiology of disease, 2016-04, Vol.88, p.118-124

2016

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Muscle Matters in Kennedy’s Disease

Neuron (Cambridge, Mass.), 2014-04, Vol.82 (2), p.251-253

2014

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Clinical features of spinal and bulbar muscular atrophy

Brain (London, England : 1878), 2009-12, Vol.132 (12), p.3242-3251

2009

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A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study

Neuromuscular disorders : NMD, 2015-07, Vol.25 (7), p.554-562

2015

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Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients

Neurobiology of disease, 2014-10, Vol.70, p.12-20

2014

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Brain (London, England : 1878), 2010-06, Vol.133 (6), p.1798-1809

2010

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CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila

Neurobiology of disease, 2014-08, Vol.68, p.180-189

2014

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Valproic acid increases SMN levels in spinal muscular atrophy patient cells

Annals of neurology, 2003-11, Vol.54 (5), p.647-654

2003

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Distal spinal and bulbar muscular atrophy caused by dynactin mutation

Annals of neurology, 2005-05, Vol.57 (5), p.687-694

2005

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Maybe too much of a good thing in gene therapy

Nature neuroscience, 2021-07, Vol.24 (7), p.901-902

2021

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Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations

Annals of neurology, 2001-06, Vol.49 (6), p.706-711

2001

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Spinal and Bulbar Muscular Atrophy Overview

Journal of molecular neuroscience, 2016-03, Vol.58 (3), p.317-320

Fischbeck, Kenneth H.

2016

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Polyglutamine-Expanded Androgen Receptor Truncation Fragments Activate a Bax-Dependent Apoptotic Cascade Mediated by DP5/Hrk

The Journal of neuroscience, 2009-02, Vol.29 (7), p.1987-1997

2009

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Developing treatment for spinal and bulbar muscular atrophy

Progress in neurobiology, 2012-12, Vol.99 (3), p.257-261

Fischbeck, Kenneth H

2012

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B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy

Journal of neuroscience research, 2010-08, Vol.88 (10), p.2207-2216

2010

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Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA)

Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment

Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4

Overexpression of IGF-1 in Muscle Attenuates Disease in a Mouse Model of Spinal and Bulbar Muscular Atrophy

Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial

Decreased Motor Neuron Support by SMA Astrocytes due to Diminished MCP1 Secretion

AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia

Spinal and Bulbar Muscular Atrophy

CNS uptake of bortezomib is enhanced by P-glycoprotein inhibition: implications for spinal muscular atrophy

Muscle Matters in Kennedy’s Disease

Clinical features of spinal and bulbar muscular atrophy

A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study

Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients

Efficacy and safety of dutasteride in patients with spinal and bulbar muscular atrophy: a randomised placebo-controlled trial

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila

Valproic acid increases SMN levels in spinal muscular atrophy patient cells

Distal spinal and bulbar muscular atrophy caused by dynactin mutation

Maybe too much of a good thing in gene therapy

Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations

Spinal and Bulbar Muscular Atrophy Overview

Polyglutamine-Expanded Androgen Receptor Truncation Fragments Activate a Bax-Dependent Apoptotic Cascade Mediated by DP5/Hrk

Developing treatment for spinal and bulbar muscular atrophy

B2 attenuates polyglutamine-expanded androgen receptor toxicity in cell and fly models of spinal and bulbar muscular atrophy

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