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In vivo effects of AZD4547, a novel fibroblast growth factor receptor inhibitor, in a mouse model of endometriosis

Pharmacology research & perspectives, 2021-04, Vol.9 (2), p.e00759-n/a

2021

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Development of a Novel Controlled Release Pelvic Drug Delivery System to Manage Endometriosis

Santorelli, Sara

2018

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Oculomotor features in SCA27B patients

Clinical neurophysiology, 2024-02, Vol.158, p.56-58

2024

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Methylmalonic and propionic aciduria

American journal of medical genetics. Part C, Seminars in medical genetics, 2006-05, Vol.142C (2), p.104-112

2006

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Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model

Neurobiology of disease, 2024-07, Vol.197, p.106536, Article 106536

2024

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Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses

Frontiers in cellular neuroscience, 2024-09, Vol.18, p.1445003

2024

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The Extra-Virgin Olive Oil Polyphenols Oleocanthal and Oleacein Counteract Inflammation-Related Gene and miRNA Expression in Adipocytes by Attenuating NF-κB Activation

Nutrients, 2019-11, Vol.11 (12), p.2855

2019

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Congenital myopathies: clinical phenotypes and new diagnostic tools

Italian journal of pediatrics, 2017-11, Vol.43 (1), p.101-101, Article 101

2017

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Carotid Artery Intima-media Thickness in Nonalcoholic Fatty Liver Disease

The American journal of medicine, 2008, Vol.121 (1), p.72-78

2008

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Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the Literature

Neuropediatrics, 2024-10, Vol.55 (5), p.341-346

2024

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Tumor Suppressor Role of hsa-miR-193a-3p and -5p in Cutaneous Melanoma

International journal of molecular sciences, 2020-08, Vol.21 (17), p.6183

2020

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Somatic overgrowth predisposes to seizures in autism spectrum disorders

PloS one, 2013-09, Vol.8 (9), p.e75015-e75015

2013

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Familial Alzheimer’s disease associated with heterozygous NPC1 mutation

Journal of medical genetics, 2023-11, Vol.61 (4), p.332-339

2023

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Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

ACS omega, 2020-06, Vol.5 (21), p.12451-12466

2020

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Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

JAMA neurology, 2015-05, Vol.72 (5), p.561

2015

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Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy

Scientific reports, 2016-09, Vol.6 (1), p.34325-34325, Article 34325

2016

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Effectiveness of a midwife-led continuity of care model on birth outcomes and maternal mental health in vulnerable women: study protocol for a randomised controlled trial with an internal pilot, process evaluation and economic analysis

BMJ open, 2023-11, Vol.13 (11), p.e072415-e072415

2023

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Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network

Neurology, 2024-08, Vol.103 (4), p.e209697

2024

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Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort

Journal of neurology, 2024-08, Vol.271 (8), p.5478-5488

2024

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Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Orphanet journal of rare diseases, 2017-05, Vol.12 (1), p.90-90, Article 90

2017

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Regulation of Gene Expression and Signaling Pathway Activity in Mammalian Cells by Automated Microfluidics Feedback Control

ACS synthetic biology, 2018-11, Vol.7 (11), p.2558-2565

2018

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Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD

Journal of neurology, 2016-05, Vol.263 (5), p.1029-1032

2016

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Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene

Clinical neurology and neurosurgery, 2021-08, Vol.207, p.106763-106763, Article 106763

2021

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In vivo effects of AZD4547, a novel fibroblast growth factor receptor inhibitor, in a mouse model of endometriosis

Development of a Novel Controlled Release Pelvic Drug Delivery System to Manage Endometriosis

Oculomotor features in SCA27B patients

Methylmalonic and propionic aciduria

Targeting autophagy impairment improves the phenotype of a novel CLN8 zebrafish model

Glucose metabolism impairment as a hallmark of progressive myoclonus epilepsies: a focus on neuronal ceroid lipofuscinoses

The Extra-Virgin Olive Oil Polyphenols Oleocanthal and Oleacein Counteract Inflammation-Related Gene and miRNA Expression in Adipocytes by Attenuating NF-κB Activation

Congenital myopathies: clinical phenotypes and new diagnostic tools

Carotid Artery Intima-media Thickness in Nonalcoholic Fatty Liver Disease

Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the Literature

Tumor Suppressor Role of hsa-miR-193a-3p and -5p in Cutaneous Melanoma

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Somatic overgrowth predisposes to seizures in autism spectrum disorders

Familial Alzheimer’s disease associated with heterozygous NPC1 mutation

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy

Effectiveness of a midwife-led continuity of care model on birth outcomes and maternal mental health in vulnerable women: study protocol for a randomised controlled trial with an internal pilot, process evaluation and economic analysis

Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network

Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Regulation of Gene Expression and Signaling Pathway Activity in Mammalian Cells by Automated Microfluidics Feedback Control

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD

Gordon Holmes syndrome caused by two novel mutations in the PNPLA6 gene

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