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Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier

Cell stem cell, 2017-06, Vol.20 (6), p.831-843.e5

2017

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HIV-1 Tat Dysregulates the Hypothalamic-Pituitary-Adrenal Stress Axis and Potentiates Oxycodone-Mediated Psychomotor and Anxiety-Like Behavior of Male Mice

International journal of molecular sciences, 2020-11, Vol.21 (21), p.8212

2020

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Deletion of Adenosine A2A Receptors From Astrocytes Disrupts Glutamate Homeostasis Leading to Psychomotor and Cognitive Impairment: Relevance to Schizophrenia

Biological psychiatry (1969), 2015-12, Vol.78 (11), p.763-774

2015

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Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies

Molecular genetics and metabolism, 2021-06, Vol.133 (2), p.123-136

2021

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Deletion of astroglial Dicer causes non-cell-autonomous neuronal dysfunction and degeneration

The Journal of neuroscience, 2011-06, Vol.31 (22), p.8306-8319

2011

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Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria

Human molecular genetics, 2019-06, Vol.28 (11), p.1755-1767

2019

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Examination of the Pattern of Growth of Cerebral Tissue Volumes From Hospital Discharge to Early Childhood in Very Preterm Infants

JAMA pediatrics, 2016-08, Vol.170 (8), p.772

2016

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Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophy

Human brain mapping, 2013-03, Vol.34 (3), p.519-529

2013

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Combined HIV-1 Tat and oxycodone activate the hypothalamic-pituitary-adrenal and -gonadal axes and promote psychomotor, affective, and cognitive dysfunction in female mice

Hormones and behavior, 2020-03, Vol.119, p.104649-104649, Article 104649

2020

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Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

The Journal of experimental medicine, 2017-12, Vol.214 (12), p.3707-3729

2017

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Common White Matter Microstructure Alterations in Pediatric Motor and Attention Disorders

The Journal of pediatrics, 2014-05, Vol.164 (5), p.1157-1164.e1

2014

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Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

American journal of human genetics, 2015-05, Vol.96 (5), p.709-719

2015

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Leigh and Leigh-Like Syndrome in Children and Adults

Pediatric neurology, 2008-10, Vol.39 (4), p.223-235

Finsterer, Josef, MD, PhD

2008

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Further delineation of the KAT6B molecular and phenotypic spectrum

European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1165-1170

2015

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A new integrative model of lateral epicondylalgia

British journal of sports medicine, 2009-04, Vol.43 (4), p.252-258

2009

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Disconnecting force from money: effects of basal ganglia damage on incentive motivation

Brain (London, England : 1878), 2008-05, Vol.131 (5), p.1303-1310

2008

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Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature

Journal of Child Neurology, 2021-03, Vol.36 (4), p.310-323

2021

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Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect

Clinical genetics, 2017-06, Vol.91 (6), p.918-923

2017

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Fatty acid transporters in skin development, function and disease

Biochimica et biophysica acta, 2014-03, Vol.1841 (3), p.362-368

2014

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Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3068-3073

2021

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Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy

Journal of child neurology, 2021-09, Vol.36 (10), p.805-811

2021

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Complex phenotypes blur conventional borders between Say–Barber–Biesecker–Young–Simpson syndrome and genitopatellar syndrome

Clinical genetics, 2017-02, Vol.91 (2), p.339-343

2017

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Hypercholesterolemia causes psychomotor abnormalities in mice and alterations in cortico-striatal biogenic amine neurotransmitters: Relevance to Parkinson's disease

Neurochemistry international, 2017-09, Vol.108, p.15-26

2017

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Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties

Scientific reports, 2019-08, Vol.9 (1), p.11791-14, Article 11791

2019

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Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2102-2107

2021

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Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier

HIV-1 Tat Dysregulates the Hypothalamic-Pituitary-Adrenal Stress Axis and Potentiates Oxycodone-Mediated Psychomotor and Anxiety-Like Behavior of Male Mice

Deletion of Adenosine A2A Receptors From Astrocytes Disrupts Glutamate Homeostasis Leading to Psychomotor and Cognitive Impairment: Relevance to Schizophrenia

Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies

Deletion of astroglial Dicer causes non-cell-autonomous neuronal dysfunction and degeneration

Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria

Examination of the Pattern of Growth of Cerebral Tissue Volumes From Hospital Discharge to Early Childhood in Very Preterm Infants

Clinical impairment in premanifest and early Huntington's disease is associated with regionally specific atrophy

Combined HIV-1 Tat and oxycodone activate the hypothalamic-pituitary-adrenal and -gonadal axes and promote psychomotor, affective, and cognitive dysfunction in female mice

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

Common White Matter Microstructure Alterations in Pediatric Motor and Attention Disorders

Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination

Leigh and Leigh-Like Syndrome in Children and Adults

Further delineation of the KAT6B molecular and phenotypic spectrum

A new integrative model of lateral epicondylalgia

Disconnecting force from money: effects of basal ganglia damage on incentive motivation

Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect

Fatty acid transporters in skin development, function and disease

Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10

Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy

Complex phenotypes blur conventional borders between Say–Barber–Biesecker–Young–Simpson syndrome and genitopatellar syndrome

Hypercholesterolemia causes psychomotor abnormalities in mice and alterations in cortico-striatal biogenic amine neurotransmitters: Relevance to Parkinson's disease

Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

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