Lista de obras - Chiara La Morgia - Dominio Público Uruguay

'Agrypnia excitata' in a case of sporadic Creutzfeldt-Jakob disease VV2.

artículo científico publicado en 2009

'Behr syndrome' with OPA1 compound heterozygote mutations

artículo científico publicado en 2014

A neurodegenerative perspective on mitochondrial optic neuropathies

artículo científico publicado en 2016

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

artículo científico publicado en 2014

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

artículo científico publicado en 2014

Augmentation of restless legs syndrome with long-term tramadol treatment

Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

artículo científico publicado en 2020

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

artículo científico publicado en 2007

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

scientific article published on 14 December 2012

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations

artículo científico publicado en 2010

Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies

artículo científico publicado en 2015

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation

artículo científico publicado en 2014

Epilepsy in coeliac disease: not just a matter of calcifications

artículo científico publicado en 2011

Functional MRI study in a case of Charles Bonnet syndrome related to LHON

scientific article published on 30 December 2019

Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?

artículo científico publicado en 2007

High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.

artículo científico publicado en 2010

Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy

scientific article published on 03 April 2020

Idebenone treatment in Leber's hereditary optic neuropathy.

artículo científico publicado en 2011

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

artículo científico publicado en 2013

Idiopathic Intracranial Hypertension Without Papilledema (IIHWOP) in Chronic Refractory Headache

scholarly article by Valentina Favoni et al published 2018 in Frontiers in Neurology

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy

artículo científico publicado en 2017

Leber's hereditary optic neuropathy with childhood onset

Leber’s Hereditary Optic Neuropathy

artículo científico publicado en 2011

Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?

artículo científico publicado en 2012

Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements.

artículo científico publicado en 2015

Macular nerve fibre and ganglion cell layer changes in acute Leber's hereditary optic neuropathy

artículo científico publicado en 2015

Medical management of hereditary optic neuropathies

artículo científico publicado en 2014

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies

artículo científico publicado en 2010

Melanopsin-expressing retinal ganglion cells: implications for human diseases

artículo científico publicado en 2011

Microcystic macular degeneration from optic neuropathy: not inflammatory, not trans-synaptic degeneration.

artículo científico publicado en 2013

Mitochondrial diseases in adults

artículo científico publicado en 2020

Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options

artículo científico

Mitochondrial optic neuropathies: how two genomes may kill the same cell type?

artículo científico publicado en 2007

Mitochondrial optic neuropathies: our travels from bench to bedside and back again.

artículo científico

Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber's hereditary optic neuropathy

artículo científico publicado en 2015

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

scientific journal article

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

artículo científico publicado en 2020

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

artículo científico publicado en 2014

Nocturnal melatonin regulation in post-traumatic vegetative state: a possible role for melatonin supplementation?

artículo científico publicado en 2014

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

artículo científico publicado en 2008

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation

artículo científico publicado en 2015

Optical coherence tomography angiography of the peripapillary retina and optic nerve head in dominant optic atrophy

artículo científico publicado en 2017

P027. Idiopathic intracranial hypertension without papilledema in refractory chronic daily headache

artículo científico publicado en 2015

Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.

artículo científico publicado en 2014

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

artículo científico publicado en 2008

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

artículo científico publicado en 2012

Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber's hereditary optic neuropathy.

artículo científico publicado en 2013

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

artículo científico publicado en 2009

Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age

Secondary post-geniculate involvement in Leber's hereditary optic neuropathy

artículo científico publicado en 2012

Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON).

artículo científico publicado en 2009

Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients.

artículo científico publicado en 2011

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

artículo científico publicado en 2015

The optic nerve: A “mito-window” on mitochondrial neurodegeneration ⬇️

artículo científico publicado el 15 de agosto de 2012

The pupil light reflex in Leber's hereditary optic neuropathy: evidence for preservation of melanopsin-expressing retinal ganglion cells

artículo científico publicado en 2013

Therapeutic Options in Hereditary Optic Neuropathies

artículo científico publicado en 2020

Transverse Sinus Stenosis in Refractory Chronic Headache Patients: An Observational Study

scientific article published on 12 December 2019

Lista de obras de Chiara La Morgia

'Agrypnia excitata' in a case of sporadic Creutzfeldt-Jakob disease VV2.

'Behr syndrome' with OPA1 compound heterozygote mutations

A neurodegenerative perspective on mitochondrial optic neuropathies

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

Augmentation of restless legs syndrome with long-term tramadol treatment

Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations

Diffusion Tensor Imaging Mapping of Brain White Matter Pathology in Mitochondrial Optic Neuropathies

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation

Epilepsy in coeliac disease: not just a matter of calcifications

Functional MRI study in a case of Charles Bonnet syndrome related to LHON

Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?

High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.

Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy

Idebenone treatment in Leber's hereditary optic neuropathy.

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

Idiopathic Intracranial Hypertension Without Papilledema (IIHWOP) in Chronic Refractory Headache

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy

Leber's hereditary optic neuropathy with childhood onset

Leber’s Hereditary Optic Neuropathy

Loss of temporal retinal nerve fibers in Parkinson disease: a mitochondrial pattern?

Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements.

Macular nerve fibre and ganglion cell layer changes in acute Leber's hereditary optic neuropathy

Medical management of hereditary optic neuropathies

Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies

Melanopsin-expressing retinal ganglion cells: implications for human diseases

Microcystic macular degeneration from optic neuropathy: not inflammatory, not trans-synaptic degeneration.

Mitochondrial diseases in adults

Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options

Mitochondrial optic neuropathies: how two genomes may kill the same cell type?

Mitochondrial optic neuropathies: our travels from bench to bedside and back again.

Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber's hereditary optic neuropathy

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Nocturnal melatonin regulation in post-traumatic vegetative state: a possible role for melatonin supplementation?

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation

Optical coherence tomography angiography of the peripapillary retina and optic nerve head in dominant optic atrophy

P027. Idiopathic intracranial hypertension without papilledema in refractory chronic daily headache

Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber's hereditary optic neuropathy.

Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders

Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age

Secondary post-geniculate involvement in Leber's hereditary optic neuropathy

Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON).

Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients.

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

The optic nerve: A “mito-window” on mitochondrial neurodegeneration ⬇️

The pupil light reflex in Leber's hereditary optic neuropathy: evidence for preservation of melanopsin-expressing retinal ganglion cells

Therapeutic Options in Hereditary Optic Neuropathies

Transverse Sinus Stenosis in Refractory Chronic Headache Patients: An Observational Study