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Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons

Cell reports (Cambridge), 2014-04, Vol.7 (1), p.1-11

2014

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A yeast model of FUS/TLS-dependent cytotoxicity

PLoS biology, 2011-04, Vol.9 (4), p.e1001052-e1001052

2011

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ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

Nature genetics, 2006-04, Vol.38 (4), p.411-413

2006

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Anti-SOD1 Nanobodies That Stabilize Misfolded SOD1 Proteins Also Promote Neurite Outgrowth in Mutant SOD1 Human Neurons

International journal of molecular sciences, 2022-12, Vol.23 (24), p.16013

2022

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Evaluating protein cross-linking as a therapeutic strategy to stabilize SOD1 variants in a mouse model of familial ALS

PLoS biology, 2024-01, Vol.22 (1), p.e3002462-e3002462, Article e3002462

2024

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Tetanus toxin C fragment-conjugated nanoparticles for targeted drug delivery to neurons

Biomaterials, 2007-12, Vol.28 (34), p.5176-5184

2007

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Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS

Neurobiology of disease, 2012-12, Vol.48 (3), p.391-398

2012

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Inhibition of fast axonal transport by pathogenic SOD1 involves activation of p38 MAP kinase

PloS one, 2013-06, Vol.8 (6), p.e65235

2013

Volltextzugriff (PDF)

Mutant dynactin in motor neuron disease

Nature genetics, 2003-04, Vol.33 (4), p.455-456

2003

Volltextzugriff (PDF)

Dysferlin in Membrane Trafficking and Patch Repair

Traffic (Copenhagen, Denmark), 2007-07, Vol.8 (7), p.785-794

2007

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Sodium phenylbutyrate prolongs survival and regulates expression of anti‐apoptotic genes in transgenic amyotrophic lateral sclerosis mice

Journal of neurochemistry, 2005-06, Vol.93 (5), p.1087-1098

2005

Volltextzugriff (PDF)

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

Neurobiology of aging, 2015-03, Vol.36 (3), p.1602.e17-1602.e27

2015

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Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

Lancet neurology, 2010-10, Vol.9 (10), p.986-994

2010

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A randomized trial of mexiletine in ALS: Safety and effects on muscle cramps and progression

Neurology, 2016-04, Vol.86 (16), p.1474

2016

Volltextzugriff (PDF)

Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer

PloS one, 2012-06, Vol.7 (6), p.e39233-e39233

2012

Volltextzugriff (PDF)

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

Neurology, 2012-11, Vol.79 (22), p.2201

2012

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Proteomic profiling of cerebrospinal fluid identifies biomarkers for amyotrophic lateral sclerosis

Journal of neurochemistry, 2005-12, Vol.95 (5), p.1461-1471

2005

Volltextzugriff (PDF)

RNA metabolism and the pathogenesis of motor neuron diseases

Trends in neurosciences (Regular ed.), 2010-05, Vol.33 (5), p.249-258

2010

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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Nature genetics, 2001-10, Vol.29 (2), p.166-173

2001

Volltextzugriff (PDF)

BET bromodomain inhibitors PFI-1 and JQ1 are identified in an epigenetic compound screen to enhance C9ORF72 gene expression and shown to ameliorate C9ORF72-associated pathological and behavioral abnormalities in a C9ALS/FTD model

Clinical epigenetics, 2021-03, Vol.13 (1), p.56, Article 56

2021

Volltextzugriff (PDF)

A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD

Molecular neurodegeneration, 2017-06, Vol.12 (1), p.46-11, Article 46

2017

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Identification of selective and non-selective C9ORF72 targeting in vivo active siRNAs

Molecular therapy. Nucleic acids, 2024-09, Vol.35 (3), p.102291, Article 102291

2024

Volltextzugriff (PDF)

VEGF increases blood–brain barrier permeability to Evans blue dye and tetanus toxin fragment C but not adeno-associated virus in ALS mice

Brain research, 2008-10, Vol.1234, p.198-205

2008

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Mutational analysis of TARDBP in neurodegenerative diseases

Neurobiology of aging, 2011-11, Vol.32 (11), p.2096-2099

2011

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Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons

A yeast model of FUS/TLS-dependent cytotoxicity

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis

Anti-SOD1 Nanobodies That Stabilize Misfolded SOD1 Proteins Also Promote Neurite Outgrowth in Mutant SOD1 Human Neurons

Evaluating protein cross-linking as a therapeutic strategy to stabilize SOD1 variants in a mouse model of familial ALS

Tetanus toxin C fragment-conjugated nanoparticles for targeted drug delivery to neurons

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS

Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS

Inhibition of fast axonal transport by pathogenic SOD1 involves activation of p38 MAP kinase

Mutant dynactin in motor neuron disease

Dysferlin in Membrane Trafficking and Patch Repair

Sodium phenylbutyrate prolongs survival and regulates expression of anti‐apoptotic genes in transgenic amyotrophic lateral sclerosis mice

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

A randomized trial of mexiletine in ALS: Safety and effects on muscle cramps and progression

Homologous recombination mediates functional recovery of dysferlin deficiency following AAV5 gene transfer

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

Proteomic profiling of cerebrospinal fluid identifies biomarkers for amyotrophic lateral sclerosis

RNA metabolism and the pathogenesis of motor neuron diseases

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

BET bromodomain inhibitors PFI-1 and JQ1 are identified in an epigenetic compound screen to enhance C9ORF72 gene expression and shown to ameliorate C9ORF72-associated pathological and behavioral abnormalities in a C9ALS/FTD model

A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD

Identification of selective and non-selective C9ORF72 targeting in vivo active siRNAs

VEGF increases blood–brain barrier permeability to Evans blue dye and tetanus toxin fragment C but not adeno-associated virus in ALS mice

Mutational analysis of TARDBP in neurodegenerative diseases

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