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Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

Brain (London, England : 1878), 2016-02, Vol.139 (Pt 2), p.317-337

2016

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Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

The Journal of experimental medicine, 2017-03, Vol.214 (3), p.681-697

2017

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Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.631-640

2017

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Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study

Orphanet journal of rare diseases, 2019-05, Vol.14 (1), p.96-96, Article 96

2019

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Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

Cell reports (Cambridge), 2016-10, Vol.17 (4), p.1053-1070

2016

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High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

Nature communications, 2024-01, Vol.15 (1), p.584-22, Article 584

2024

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p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis

Cancer research (Chicago, Ill.), 2017-06, Vol.77 (12), p.3255-3267

2017

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1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-441, Article 441

2021

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The evolving spectrum of PRRT2-associated paroxysmal diseases

Brain (London, England : 1878), 2015-12, Vol.138 (Pt 12), p.3476-3495

2015

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The spectrum of movement disorders in young children with ARX‐related epilepsy‐dyskinesia syndrome

Annals of clinical and translational neurology, 2024-06, Vol.11 (6), p.1643-1647

2024

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Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

Annals of clinical and translational neurology, 2022-04, Vol.9 (4), p.570-576

2022

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High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

Brain communications, 2021-01, Vol.3 (4), p.fcab221-fcab221

2021

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Gentherapien für neuromuskuläre Erkrankungen

Nervenarzt, 2019-08, Vol.90 (8), p.809-816

2019

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Childhood-onset hereditary spastic paraplegia and its treatable mimics

Molecular genetics and metabolism, 2022-12, Vol.137 (4), p.436-444

2022

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Reply to: Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

Movement disorders, 2023-05, Vol.38 (5), p.911-913

2023

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Cerebrospinal fluid proteomic profiling in nusinersen‐treated patients with spinal muscular atrophy

Journal of neurochemistry, 2020-06, Vol.153 (5), p.650-661

2020

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De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations

Human molecular genetics, 2023-01, Vol.32 (1), p.93-103

2023

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Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons

Autophagy, 2017-04, Vol.13 (4), p.754-756

2017

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Quantitative MR neurography biomarkers in 5q-linked spinal muscular atrophy

Neurology, 2019-08, Vol.93 (7), p.e653

2019

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Gene therapies for neuromuscular diseases

Nervenarzt, 2019-08, Vol.90 (8), p.809-816

2019

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Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases

Autophagy, 2022-07, Vol.18 (7), p.1715-1727

2022

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Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic VWA1 variants

American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3531-3534

2022

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Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study

Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

The evolving spectrum of PRRT2-associated paroxysmal diseases

The spectrum of movement disorders in young children with ARX‐related epilepsy‐dyskinesia syndrome

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

Gentherapien für neuromuskuläre Erkrankungen

Childhood-onset hereditary spastic paraplegia and its treatable mimics

Reply to: Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

Cerebrospinal fluid proteomic profiling in nusinersen‐treated patients with spinal muscular atrophy

De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations

Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons

Quantitative MR neurography biomarkers in 5q-linked spinal muscular atrophy

Gene therapies for neuromuscular diseases

Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases

Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic VWA1 variants

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