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ALS Genetics: Gains, Losses, and Implications for Future Therapies

Neuron (Cambridge, Mass.), 2020-12, Vol.108 (5), p.822-842

2020

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Cortico-reticulo-spinal circuit reorganization enables functional recovery after severe spinal cord contusion

Nature neuroscience, 2018-04, Vol.21 (4), p.576-588

2018

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Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants

American journal of human genetics, 2021-12, Vol.108 (12), p.2301-2318

2021

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Mechanisms of Mendelian dominance

Clinical genetics, 2018-03, Vol.93 (3), p.419-428

2018

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In recovery

British dental journal, 2024-02, Vol.236 (4), p.233-233

Sellars, Shaun

2024

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SCN8A Epilepsy, Developmental Encephalopathy, and Related Disorders

Pediatric neurology, 2021-09, Vol.122, p.76-83

2021

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Targeting α‐Synuclein: A Further Viewpoint

Movement disorders, 2023-04, Vol.38 (4), p.715-716

Lang, Anthony E.

2023

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Recovery from disorders of consciousness: mechanisms, prognosis and emerging therapies

Nature reviews. Neurology, 2021-03, Vol.17 (3), p.135-156

2021

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148 Disseminated Histoplasmosis in an Adult with STAT1 Mutation

Clinical immunology (Orlando, Fla.), 2024-05, Vol.262, p.110090, Article 110090

2024

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A latent lineage potential in resident neural stem cells enables spinal cord repair

Science (American Association for the Advancement of Science), 2020-10, Vol.370 (6512), p.73

2020

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The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

Brain (London, England : 1878), 2021-07, Vol.144 (6), p.1819-1832

2021

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A Sensitized IGF1 Treatment Restores Corticospinal Axon-Dependent Functions

Neuron (Cambridge, Mass.), 2017-08, Vol.95 (4), p.817-833.e4

2017

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Maresin 1 Promotes Inflammatory Resolution, Neuroprotection, and Functional Neurological Recovery After Spinal Cord Injury

The Journal of neuroscience, 2017-11, Vol.37 (48), p.11731-11743

2017

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Blocking type I interferon signaling enhances T cell recovery and reduces HIV-1 reservoirs

The Journal of clinical investigation, 2017-01, Vol.127 (1), p.269-279

2017

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Brilliant Imperfection: Grappling with Cure

Clare, Eli

1, 2017

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PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy

Clinical genetics, 2021-08, Vol.100 (2), p.227-233

2021

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Tetramethylpyrazine nitrone activates the BDNF/Akt/CREB pathway to promote post‐ischaemic neuroregeneration and recovery of neurological functions in rats

British journal of pharmacology, 2018-02, Vol.175 (3), p.517-531

2018

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Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1

Clinical and experimental immunology, 2023-04, Vol.212 (2), p.96-106

2023

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Functional recovery after peripheral nerve injury is dependent on the pro-inflammatory cytokines IL-1β and TNF: implications for neuropathic pain

The Journal of neuroscience, 2011-08, Vol.31 (35), p.12533-12542

2011

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Transcriptome analyses reveal molecular mechanisms underlying functional recovery after spinal cord injury

Proceedings of the National Academy of Sciences - PNAS, 2015-10, Vol.112 (43), p.13360-13365

2015

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JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences

Journal of clinical immunology, 2023-08, Vol.43 (6), p.1326-1359

2023

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Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome

Human mutation, 2018-02, Vol.39 (2), p.219-236

2018

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Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia

Journal of genetics and genomics, 2024-08, Vol.51 (8), p.801-810

2024

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183 Resolving Variants of Unknown Significance (VUS) in PIK3CD and PIK3R1

Clinical immunology (Orlando, Fla.), 2024-05, Vol.262, p.110125, Article 110125

2024

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What is recovering? Reflection on the place of perception, time and norms in health recovery

Recherche en soins infirmiers, 2024-01, Vol.154 (3), p.6

Bastiani, Flora

2024

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ALS Genetics: Gains, Losses, and Implications for Future Therapies

Cortico-reticulo-spinal circuit reorganization enables functional recovery after severe spinal cord contusion

Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants

Mechanisms of Mendelian dominance

In recovery

SCN8A Epilepsy, Developmental Encephalopathy, and Related Disorders

Targeting α‐Synuclein: A Further Viewpoint

Recovery from disorders of consciousness: mechanisms, prognosis and emerging therapies

148 Disseminated Histoplasmosis in an Adult with STAT1 Mutation

A latent lineage potential in resident neural stem cells enables spinal cord repair

The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3

A Sensitized IGF1 Treatment Restores Corticospinal Axon-Dependent Functions

Maresin 1 Promotes Inflammatory Resolution, Neuroprotection, and Functional Neurological Recovery After Spinal Cord Injury

Blocking type I interferon signaling enhances T cell recovery and reduces HIV-1 reservoirs

Brilliant Imperfection: Grappling with Cure

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy

Tetramethylpyrazine nitrone activates the BDNF/Akt/CREB pathway to promote post‐ischaemic neuroregeneration and recovery of neurological functions in rats

Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1

Functional recovery after peripheral nerve injury is dependent on the pro-inflammatory cytokines IL-1β and TNF: implications for neuropathic pain

Transcriptome analyses reveal molecular mechanisms underlying functional recovery after spinal cord injury

JAKs and STATs from a Clinical Perspective: Loss-of-Function Mutations, Gain-of-Function Mutations, and Their Multidimensional Consequences

Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome

Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia

183 Resolving Variants of Unknown Significance (VUS) in PIK3CD and PIK3R1

What is recovering? Reflection on the place of perception, time and norms in health recovery

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