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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

EMBO molecular medicine, 2018-06, Vol.10 (6), p.n/a

2018

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Neurocognitive and emotional factors predict pain‐related healthcare utilization in children with sickle cell disease

Pediatric blood & cancer, 2023-06, Vol.70 (6), p.e30346-n/a

2023

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Neurocognitive and psychological effects of persistent pain in pediatric sickle cell disease

Pediatric blood & cancer, 2019-09, Vol.66 (9), p.e27823-n/a

2019

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Social-environmental factors and cognitive and behavioral functioning in pediatric sickle cell disease

Child neuropsychology, 2020-01, Vol.26 (1), p.83-99

2020

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Alteration of grey matter volume is associated with pain and quality of life in children with sickle cell disease

Translational research : the journal of laboratory and clinical medicine, 2022-02, Vol.240, p.17-25

2022

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The effect of NK3-Saporin injection within the arcuate nucleus on puberty, the LH surge, and the response to Senktide in female sheep

Biology of reproduction, 2024-02, Vol.110 (2), p.275

2024

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Feasibility of Home-Based Computerized Working Memory Training With Children and Adolescents With Sickle Cell Disease

Pediatric blood & cancer, 2016-09, Vol.63 (9), p.1578-1585

2016

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Do Substance P and Neurokinin A Play Important Roles in the Control of LH Secretion in Ewes?

Endocrinology (Philadelphia), 2016-12, Vol.157 (12), p.4829-4841

2016

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LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Brain (London, England : 1878), 2015-12, Vol.138 (Pt 12), p.3503-3519

2015

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Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

Journal of neurology, neurosurgery and psychiatry, 2014-03, Vol.85 (3), p.331-338

2014

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Views of parents of children with sickle cell disease on pre‐implantation genetic diagnosis

Pediatric blood & cancer, 2018-08, Vol.65 (8), p.e27102-n/a

2018

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Evidence That Endogenous Somatostatin Inhibits Episodic, but Not Surge, Secretion of LH in Female Sheep

Endocrinology (Philadelphia), 2017-06, Vol.158 (6), p.1827-1837

2017

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Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

JAMA neurology, 2018-01, Vol.75 (1), p.105

2018

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A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Journal of medical genetics, 2016-09, Vol.53 (9), p.634-641

2016

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Radiation exposure from Videofluoroscopic Swallow Studies in children with a type 1 laryngeal cleft and pharyngeal dysphagia: A retrospective review

International journal of pediatric otorhinolaryngology, 2016-10, Vol.89, p.92-96

2016

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Evidence That Dynorphin Plays a Major Role in Mediating Progesterone Negative Feedback on Gonadotropin-Releasing Hormone Neurons in Sheep

Endocrinology (Philadelphia), 2004-06, Vol.145 (6), p.2959-2967

2004

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Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1735-1738

2015

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Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

Journal of inherited metabolic disease, 2017-01, Vol.40 (1), p.121-130

2017

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A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Neuromuscular disorders : NMD, 2019-09, Vol.29 (9), p.693-697

2019

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Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant

Neuromuscular disorders : NMD, 2018-04, Vol.28 (4), p.350-360

2018

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Clinical features of the pathogenic m.5540g>a mitochondrial transfer rna tryptophan gene mutation

Neuromuscular disorders : NMD, 2016-10, Vol.26 (10), p.702-705

2016

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Factors Predicting Outcome of Surgery for Intractable Epilepsy with Pathologically Verified Mesial Temporal Sclerosis

Epilepsia (Copenhagen), 2003-04, Vol.44 (4), p.565-568

2003

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Seasonal Plasticity within the Gonadotropin-Releasing Hormone (GnRH) System of the Ewe: Changes in Identified GnRH Inputs and Glial Association

Endocrinology (Philadelphia), 2003-08, Vol.144 (8), p.3663-3676

2003

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Evidence that Thyroid Hormones Act in the Ventromedial Preoptic Area and the Premammillary Region of the Brain to Allow the Termination of the Breeding Season in the Ewe

Endocrinology (Philadelphia), 2003-07, Vol.144 (7), p.2892-2901

2003

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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

Neurocognitive and emotional factors predict pain‐related healthcare utilization in children with sickle cell disease

Neurocognitive and psychological effects of persistent pain in pediatric sickle cell disease

Social-environmental factors and cognitive and behavioral functioning in pediatric sickle cell disease

Alteration of grey matter volume is associated with pain and quality of life in children with sickle cell disease

The effect of NK3-Saporin injection within the arcuate nucleus on puberty, the LH surge, and the response to Senktide in female sheep

Feasibility of Home-Based Computerized Working Memory Training With Children and Adolescents With Sickle Cell Disease

Do Substance P and Neurokinin A Play Important Roles in the Control of LH Secretion in Ewes?

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Views of parents of children with sickle cell disease on pre‐implantation genetic diagnosis

Evidence That Endogenous Somatostatin Inhibits Episodic, but Not Surge, Secretion of LH in Female Sheep

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Radiation exposure from Videofluoroscopic Swallow Studies in children with a type 1 laryngeal cleft and pharyngeal dysphagia: A retrospective review

Evidence That Dynorphin Plays a Major Role in Mediating Progesterone Negative Feedback on Gonadotropin-Releasing Hormone Neurons in Sheep

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy

Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant

Clinical features of the pathogenic m.5540g>a mitochondrial transfer rna tryptophan gene mutation

Factors Predicting Outcome of Surgery for Intractable Epilepsy with Pathologically Verified Mesial Temporal Sclerosis

Seasonal Plasticity within the Gonadotropin-Releasing Hormone (GnRH) System of the Ewe: Changes in Identified GnRH Inputs and Glial Association

Evidence that Thyroid Hormones Act in the Ventromedial Preoptic Area and the Premammillary Region of the Brain to Allow the Termination of the Breeding Season in the Ewe

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