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Protein aggregation in amyotrophic lateral sclerosis

Acta neuropathologica, 2013-06, Vol.125 (6), p.777-794

2013

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riboWaltz: Optimization of ribosome P-site positioning in ribosome profiling data

PLoS computational biology, 2018-08, Vol.14 (8), p.e1006169-e1006169

2018

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Advances in therapy for spinal muscular atrophy: promises and challenges

Nature reviews. Neurology, 2018-04, Vol.14 (4), p.214-224

2018

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Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways

Acta neuropathologica, 2016-08, Vol.132 (2), p.175-196

2016

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Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study

PloS one, 2018-06, Vol.13 (6), p.e0198874-e0198874

2018

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Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy

PLoS genetics, 2017-04, Vol.13 (4), p.e1006744-e1006744

2017

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Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy

Drugs (New York, N.Y.), 2018-03, Vol.78 (3), p.293-305

2018

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Neurochondrin interacts with the SMN protein suggesting a novel mechanism for spinal muscular atrophy pathology

Journal of cell science, 2018-04, Vol.131 (8), p.jcs211482-jcs211482

2018

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Innovating spinal muscular atrophy models in the therapeutic era

Disease models & mechanisms, 2023-09, Vol.16 (9)

2023

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ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN

Human molecular genetics, 2013-09, Vol.22 (18), p.3690-3704

2013

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Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges

Clinical chemistry and laboratory medicine, 2024-06, Vol.62 (7), p.1252-1265

2024

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Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy

Communications medicine, 2024-05, Vol.4 (1), p.86-86, Article 86

2024

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Promoting expression in gene therapy: more is not always better

EMBO molecular medicine, 2024-04, Vol.16 (4), p.672-674

2024

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VCP mutations in familial and sporadic amyotrophic lateral sclerosis

Neurobiology of aging, 2012-04, Vol.33 (4), p.837.e7-837.e13

2012

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Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA

Frontiers in molecular neuroscience, 2019-03, Vol.12, p.59-59

2019

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Molecular pathology, developmental changes and synaptic dysfunction in symptomatic human C9ORF72-ALS/FTD cerebral organoids

Acta neuropathologica communications, 2024-09, Vol.12 (1), p.152

2024

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UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration

Trends in molecular medicine, 2015-10, Vol.21 (10), p.622-632

2015

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Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

Human molecular genetics, 2018-08, Vol.27 (16), p.2851-2862

2018

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In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology

Cell reports (Cambridge), 2017-10, Vol.21 (4), p.953-965

2017

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Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy

Human molecular genetics, 2020-09, Vol.29 (16), p.2674-2683

2020

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Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3

Neurobiology of aging, 2013-05, Vol.34 (5), p.1518.e5-1518.e7

2013

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UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

Brain (London, England : 1878), 2018-10, Vol.141 (10), p.2878-2894

2018

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Multifocal motor neuropathy is not associated with altered innate immune responses to endotoxin

Journal of the neurological sciences, 2023-08, Vol.451, p.120692-120692, Article 120692

2023

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IgM anti-GM2 antibodies in patients with multifocal motor neuropathy target Schwann cells and are associated with early onset

Journal of neuroinflammation, 2024-04, Vol.21 (1), p.100-100, Article 100

2024

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Active Ribosome Profiling with RiboLace

Cell reports (Cambridge), 2018-10, Vol.25 (4), p.1097-1108.e5

2018

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Protein aggregation in amyotrophic lateral sclerosis

riboWaltz: Optimization of ribosome P-site positioning in ribosome profiling data

Advances in therapy for spinal muscular atrophy: promises and challenges

Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways

Whole blood transcriptome analysis in amyotrophic lateral sclerosis: A biomarker study

Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy

Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy

Neurochondrin interacts with the SMN protein suggesting a novel mechanism for spinal muscular atrophy pathology

Innovating spinal muscular atrophy models in the therapeutic era

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN

Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges

Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy

Promoting expression in gene therapy: more is not always better

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA

Molecular pathology, developmental changes and synaptic dysfunction in symptomatic human C9ORF72-ALS/FTD cerebral organoids

UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology

Pre-natal manifestation of systemic developmental abnormalities in spinal muscular atrophy

Screening for rare variants in the coding region of ALS-associated genes at 9p21.2 and 19p13.3

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

Multifocal motor neuropathy is not associated with altered innate immune responses to endotoxin

IgM anti-GM2 antibodies in patients with multifocal motor neuropathy target Schwann cells and are associated with early onset

Active Ribosome Profiling with RiboLace

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