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Movement Disorders in Treatable Inborn Errors of Metabolism

Movement disorders, 2019-05, Vol.34 (5), p.598-613

2019

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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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Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy

Journal of inherited metabolic disease, 2020-01, Vol.43 (1), p.51-62

2020

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Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

Movement disorders, 2016-04, Vol.31 (4), p.436-457

2016

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Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

Movement disorders, 2022-05, Vol.37 (5), p.905-935

2022

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A special issue on childhood‐onset movement disorders

Movement disorders, 2019-05, Vol.34 (5), p.595-597

2019

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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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Deep brain stimulation for medically refractory status dystonicus in UBA5-related disorder

Movement disorders, 2023-09, Vol.38 (9), p.1757-1759

2023

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Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia

Movement disorders, 2023-09, Vol.38 (9), p.1742-1750

2023

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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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Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder

Clinical genetics, 2023-05, Vol.103 (5), p.566-573

2023

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

Movement disorders, 2022-12, Vol.37 (12), p.2440-2446

2022

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AP-4-mediated axonal transport controls endocannabinoid production in neurons

Nature communications, 2022-02, Vol.13 (1), p.1058-1058, Article 1058

2022

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Abnormal mTOR Activation in Autism

Annual review of neuroscience, 2018-07, Vol.41 (1), p.1-23

2018

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Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human mutation, 2021-06, Vol.42 (6), p.762-776

2021

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Clinical and genetic characterization of AP4B1‐associated SPG47

American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.311-318

2018

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Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis

American journal of medical genetics. Part A, 2022-09, Vol.188 (9), p.2590-2598

2022

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Protein degradation pathways in Parkinson’s disease: curse or blessing

Acta neuropathologica, 2012-08, Vol.124 (2), p.153-172

2012

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Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know

Neuropediatrics, 2018-02, Vol.49 (1), p.18-25

Ebrahimi-Fakhari, Darius

2018

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Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Annals of clinical and translational neurology, 2022-02, Vol.9 (2), p.193-205

2022

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Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome

The Journal of pediatrics, 2017-06, Vol.185, p.248-248.e1

2017

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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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Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study

Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.117-117, Article 117

2018

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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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The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation

Cell, 2015-05, Vol.161 (5), p.1138-1151

2015

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Movement Disorders in Treatable Inborn Errors of Metabolism

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

Novel insights into the clinical and molecular spectrum of congenital disorders of autophagy

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update

A special issue on childhood‐onset movement disorders

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases

Deep brain stimulation for medically refractory status dystonicus in UBA5-related disorder

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia

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

Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder

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

AP-4-mediated axonal transport controls endocannabinoid production in neurons

Abnormal mTOR Activation in Autism

Clinical, neuroimaging, and molecular spectrum of TECPR2‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Clinical and genetic characterization of AP4B1‐associated SPG47

Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis

Protein degradation pathways in Parkinson’s disease: curse or blessing

Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome

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

Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study

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

The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation

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