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Neuro-ophthalmological manifestations of systemic lupus erythematosus in Asian patients
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
Significance of electrophysiology in brainstem ischemia and normal diffusion weighted and high resolution MRI
KLINISCHE NEUROPHYSIOLOGIE
Reversible bilateral internuclear ophthalmoplegia following head injury
ACTA OPHTHALMOLOGICA SCANDINAVICA
A new method to investigate brain stem structural-functional correlations using digital post-processing MRI - reliability in ischemic internuclear ophthalmoplegia
EUROPEAN JOURNAL OF NEUROLOGY
Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation
GENETICS IN MEDICINE
Ocular myasthenia mimicking a one-and-a-half syndrome
JOURNAL OF NEURO-OPHTHALMOLOGY
Isolated unilateral post-traumatic internuclear ophthalmoplegia
JOURNAL OF NEURO-OPHTHALMOLOGY
Granulomatous hypophysitis and bilateral optic neuropathy
JOURNAL OF NEURO-OPHTHALMOLOGY
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene LF-like protein localized in mitochondria
NATURE GENETICS
Internuclear ophthalmoplegia and cerebellar ataxia: Report of one case
CEREBROVASCULAR DISEASES
Nuclear genetic defects of oxidative phosphorylation
HUMAN MOLECULAR GENETICS
A mitochondrial encephalo-myo-neuropathy with a nucleotide position 3271 (T-C) point mutation in the mitochondrial DNA
NEUROMUSCULAR DISORDERS
A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia
NEUROMUSCULAR DISORDERS
Optokinetic reflex dysfunction in multiple sclerosis
NEUROREPORT
Peripheral oculomotor palsy affects orienting of visuospatial attention
NEUROREPORT
Visual manifestations of temporal arteritis
RHEUMATIC DISEASE CLINICS OF NORTH AMERICA
Le syndrome anti-GQ1b
PRESSE MEDICALE
Miller Fisher syndrome: toward a more comprehensive understanding
CHINESE MEDICAL JOURNAL
Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation
ANNALS OF NEUROLOGY
Retrospective study of patients affected of a large population with mitochondrial disorders: clinical, morphological and molecular genetic evaluation
JOURNAL OF NEUROLOGY
MR imaging of cavernous sinus invasion by mucormycosis: a case study
CLINICAL NEUROLOGY AND NEUROSURGERY
An introduction: Oxidative phosphorylation diseases
SEMINARS IN NEUROLOGY
Neuro-ophthalmology of mitochondrial diseases
SEMINARS IN NEUROLOGY
Histopathological features of peripheral nerve and muscle in mitochondrialdisease
SEMINARS IN NEUROLOGY
Primary isolated brainstem injury producing internuclear ophthalmoplegia
BRITISH JOURNAL OF NEUROSURGERY
Mitochondria and the heart
CURRENT OPINION IN CARDIOLOGY
Bilateral internuclear ophthalmoplegia following mild head injury
CHILDS NERVOUS SYSTEM
Human mitochondrial DNA diseases
ADVANCED DRUG DELIVERY REVIEWS
Diagnostic yield of the lactate stress test in respiratory chain disordersunder absolute and relative workload
JOURNAL OF NEUROSCIENCE METHODS
Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia
OPHTHALMOLOGY
Acute ophthalmoparesis (without ataxia) associated with anti-GQ1b IgG antibody - Clinical features
OPHTHALMOLOGY
Diseases caused by nuclear genes affecting mtDNA stability
AMERICAN JOURNAL OF MEDICAL GENETICS
Mouse models for mitochondrial disease
AMERICAN JOURNAL OF MEDICAL GENETICS
Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
AMERICAN JOURNAL OF MEDICAL GENETICS
Mitochondrial dysfunction and neuromuscular disease
MUSCLE & NERVE
Optical imaging techniques (Histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria
METHODS IN CELL BIOLOGY, VOL 65
Ophthalmologic manifestations of rheumatic diseases
SEMINARS IN ARTHRITIS AND RHEUMATISM
Genetic diseases of the mitochondrial DNA.
SALUD PUBLICA DE MEXICO
Ten cases of Miller Fisher syndrome. Electrophysiological study.
REVUE NEUROLOGIQUE
Unusual cause of an abduction deficit in a 14 year old girl
POSTGRADUATE MEDICAL JOURNAL
Abducens nerve enhancement demonstrated by multiplanar reconstruction of contrast-enhanced three-dimensional MRI
NEURORADIOLOGY
MRI characteristics of the MLF in MS patients with chronic internuclear ophthalmoparesis
NEUROLOGY
Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a sephardic Jewish family
NEUROLOGY
Familial mitochondrial chronic progressive external ophthalmoplegia. Five families with different genetics
NERVENARZT
Anti-GQ1b antibodies: usefulness of its detection for the diagnosis of Miller-Fisher syndrome
MEDICINA CLINICA
Opsoclonus in three dimensions: oculographic, neuropathologic and modelling correlates
JOURNAL OF THE NEUROLOGICAL SCIENCES
Fine specificity of anti-GQ1b IgG and clinical features
JOURNAL OF THE NEUROLOGICAL SCIENCES
Carotid cavernous fistula due to a ruptured intracavernous aneurysm of theinternal carotid artery: treatment with selective endovascular occlusion of the aneurysm
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
The Tolosa-Hunt syndrome
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Bickerstaff's encephalitis and the Miller Fisher syndrome
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Complete bilateral horizontal gaze paralysis disclosing multiple sclerosis
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Anti-GQ1b IgG antibody syndrome: clinical and immunological range
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
JOURNAL OF MEDICAL GENETICS
Fragile T-stem in disease-associated human mitochondrial tRNA sensitizes structure to local and distant mutations
JOURNAL OF BIOLOGICAL CHEMISTRY
Refinement of the adPEO linked locus on Chr10 and analysis of MRS4 and three other candidate genes
FEBS LETTERS
Mitochondrial disease - A pulmonary and critical-care medicine perspective
CHEST
X linked dominant congenital isolated bilateral ptosis: the definition andcharacterisation of a new condition
BRITISH JOURNAL OF OPHTHALMOLOGY
A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome
ARCHIVES OF NEUROLOGY
Bilateral abducens nerve paresis associated with anti-GQ1b IgG antibody
AMERICAN JOURNAL OF OPHTHALMOLOGY
Mitochondrial myopathies
ACTA PHYSIOLOGICA SCANDINAVICA
Adaptive phenomena in internuclear ophthalmoplegia: Introduction
KLINISCHE NEUROPHYSIOLOGIE
Cellular phenotypes of age-associated skeletal muscle mitochondrial abnormalities in rhesus monkeys
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
A unique junctional palindromic sequence in mitochondrial DNA from a patient with progressive external ophthalmoplegia
JOURNAL OF CLINICAL PATHOLOGY-MOLECULAR PATHOLOGY
Grading brainstem involvement in multiple sclerosis - by means of electro-oculography
JOURNAL OF NEUROVIROLOGY
The pathophysiology of mitochondrial biogenesis: Towards four decades of mitochondrial DNA research
MOLECULAR GENETICS AND METABOLISM
Kearns-Sayre syndrome presenting as 2-oxoadipic aciduria
MOLECULAR GENETICS AND METABOLISM
Functional defects of pathogenic human mitochondrial tRNAs related to structural fragility
NATURE STRUCTURAL BIOLOGY
Mitochondrial respiratory chain activity in idiopathic dilated cardiomyopathy
JOURNAL OF CARDIAC FAILURE
Giant cavernous carotid aneurysms: Clinical presentation in fifty-seven cases
JOURNAL OF NEURO-OPHTHALMOLOGY
Ocular Motility Review for 1997-1998: Part II
JOURNAL OF NEURO-OPHTHALMOLOGY
Myasthenia gravis with a paraneoplastic marker
JOURNAL OF NEURO-OPHTHALMOLOGY
Internuclear ophthalmoplegia after coronary artery catheterization and percutaneous transluminal coronary balloon angioplasty
JOURNAL OF NEURO-OPHTHALMOLOGY
Acute onset of a bilateral areflexical mydriasis in Miller-Fisher syndrome: A rare neuro-ophthalmologic disease
JOURNAL OF NEURO-OPHTHALMOLOGY
Importance of searching for associated mitochondrial DNA alterations in patients with multiple deletions
EUROPEAN JOURNAL OF HUMAN GENETICS
Defects of intergenomic communication: Where do we stand?
BRAIN PATHOLOGY
Human mtDNA sublimons resemble rearranged mitochondrial genoms found in pathological states
HUMAN MOLECULAR GENETICS
Oculopharyngeal muscular dystrophy in a Japanese family with a short GCG expansion (GCG)(11) in PABP2 gene
NEUROMUSCULAR DISORDERS
Lactate-stress testing in 54 patients with mitochondriopathy
EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE
Mitochondrial biogenesis defects and neuromuscular disorders
PEDIATRIC NEUROLOGY
Niemann-Pick disease type C: Two cases and an update
MOVEMENT DISORDERS
Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder
JOURNAL OF CHILD NEUROLOGY
Progression in a case of Kearns-Sayre syndrome
JOURNAL OF CHILD NEUROLOGY
Mitochondrial myopathy diagnosis
NEUROLOGIC CLINICS
Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases
ANNALS OF NEUROLOGY
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
ANNALS OF NEUROLOGY
The Miller Fisher syndrome: neurophysiological and MRI evidence of both peripheral and central origin in one case
JOURNAL OF NEUROLOGY
Muscle fibres: applications for the study of the metabolic consequences ofenzyme deficiencies in skeletal muscle
BIOCHEMICAL SOCIETY TRANSACTIONS
A role for mitochondrial DNA and sperm survival
JOURNAL OF ANDROLOGY
Alternating hemiplegia of childhoood and oculomotor anomalies
JOURNAL FRANCAIS D OPHTALMOLOGIE
Oculomotor paralyses in the course of diabetes - About 12 cases
JOURNAL FRANCAIS D OPHTALMOLOGIE
Intracranial inflammatory pseudotumor: a case report and review of the literature
NEURO-OPHTHALMOLOGY
IgG antiganglioside antibodies in Guillain-Barre syndrome with bulbar palsy
JOURNAL OF NEUROIMMUNOLOGY
Analysis of mtDNA deletions in muscle by in situ hybridization
MUSCLE & NERVE
Microphotometric analysis of NADH-tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathy
JOURNAL OF INHERITED METABOLIC DISEASE
Multiple mtDNA deletions: Clinical and molecular correlations
JOURNAL OF INHERITED METABOLIC DISEASE
Commentary: Human mitochondrial cytopathies
ANNALS OF CLINICAL AND LABORATORY SCIENCE
Ophthalmoplegia resulting from an intraorbital hematoma
SURGICAL NEUROLOGY
Acute bilateral ophthalmoplegia in a young woman
SURVEY OF OPHTHALMOLOGY
Role of adenine nucleotide translocator 1 in mtDNA maintenance
SCIENCE
A probable Miller Fisher syndrome during dengue fever.
REVUE NEUROLOGIQUE