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Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β‐Propeller Protein‐Associated Neurodegeneration.
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- Movement Disorders Clinical Practice, 2019, v. 6, n. 1, p. 51, doi. 10.1002/mdc3.12693
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- Article
Correction to: Kearns‑Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.
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- 2022
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- Publication type:
- Correction Notice
Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.
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- Neurological Sciences, 2022, v. 43, n. 3, p. 2081, doi. 10.1007/s10072-022-05881-8
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- Article
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.
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- 2016
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- Publication type:
- journal article
Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I.
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- EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.202012619
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- Article
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
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- 2017
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- Publication type:
- journal article
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y
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- Article
Mitochondrial dysfunction in central nervous system white matter disorders.
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- Glia, 2014, v. 62, n. 11, p. 1878, doi. 10.1002/glia.22670
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- Article
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
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- Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2063, doi. 10.3390/jcm10102063
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- Article
SEPN1-related myopathy in three patients: novel mutations and diagnostic clues.
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- 2016
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- Publication type:
- journal article
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 6, p. 557, doi. 10.1002/ajmg.b.32649
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- Article
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2049, doi. 10.1002/ajmg.a.61321
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- Article
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.
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- Current Neurology & Neuroscience Reports, 2016, v. 16, n. 6, p. 1, doi. 10.1007/s11910-016-0656-3
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- Article
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
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- 2018
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- Publication type:
- journal article
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
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- 2018
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- Publication type:
- journal article
Myopathic changes associated with psychomotor delay and seizures caused by a novel homozygous mutation in TBCK.
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- 2020
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- Publication type:
- journal article
Childhood onset of acquired neuromyotonia: Association with a ganglioneuroma.
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- Muscle & Nerve, 2015, v. 51, n. 4, p. 620, doi. 10.1002/mus.24582
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- Article
Double-trouble in pediatric neurology: Myotonia congenita combined with charcot-marie-tooth disease type 1a.
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- Muscle & Nerve, 2014, v. 50, n. 1, p. 145, doi. 10.1002/mus.24205
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- Article
Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.
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- Muscle & Nerve, 2009, v. 39, n. 6, p. 845, doi. 10.1002/mus.21271
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- Article
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
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- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00412
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- Article
Nutritional status of children affected by X‐linked adrenoleukodystrophy.
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- Journal of Human Nutrition & Dietetics, 2023, v. 36, n. 4, p. 1316, doi. 10.1111/jhn.13173
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- Article
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
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- JAMA Neurology, 2018, v. 75, n. 1, p. 105, doi. 10.1001/jamaneurol.2017.2065
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- Article
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-53995-5
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- Article
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
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- 2021
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- Publication type:
- journal article
Postural Control in Children with Cerebellar Ataxia.
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- Applied Sciences (2076-3417), 2020, v. 10, n. 5, p. 1606, doi. 10.3390/app10051606
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- Article
Emergencies cards for neuromuscular disorders 1<sup>st</sup> Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.
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- Acta Myologica, 2022, v. 41, n. 4, p. 135, doi. 10.36185/2532-1900-081
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- Article
Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene.
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- Acta Myologica, 2017, v. 36, p. 28
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- Article
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
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- 2023
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- Publication type:
- Correction Notice
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
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- Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2115, doi. 10.1007/s10875-023-01584-7
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- Article
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
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- Annals of Neurology, 2023, v. 94, n. 4, p. 696, doi. 10.1002/ana.26716
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- Article
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
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- 2020
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- Publication type:
- journal article
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
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- Journal of Neurology, 2017, v. 264, n. 1, p. 102, doi. 10.1007/s00415-016-8312-z
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- Article
Epileptic phenotypes in children with early‐onset mitochondrial diseases.
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- Acta Neurologica Scandinavica, 2019, v. 140, n. 3, p. 184, doi. 10.1111/ane.13130
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- Article
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
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- European Journal of Neurology, 2024, v. 31, n. 7, p. 1, doi. 10.1111/ene.16275
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- Article
Phenotyping mitochondrial DNA‐related diseases in childhood: A cohort study of 150 patients.
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- European Journal of Neurology, 2023, v. 30, n. 7, p. 2079, doi. 10.1111/ene.15814
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- Article
A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C.
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- European Journal of Neurology, 2021, v. 28, n. 9, p. 3040, doi. 10.1111/ene.14955
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- Article
Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy.
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- Human Mutation, 2019, v. 40, n. 5, p. 601, doi. 10.1002/humu.23729
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- Article
Clinical, biochemical, and genetic features associated with <italic>VARS2</italic>‐related mitochondrial disease.
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- Human Mutation, 2018, v. 39, n. 4, p. 563, doi. 10.1002/humu.23398
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- Article
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.
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- Human Mutation, 2016, v. 37, n. 9, p. 898, doi. 10.1002/humu.23033
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- Article
Novel HSPG2 Gene Mutation Causing Schwartz–Jampel Syndrome in a Moroccan Family: A Literature Review.
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- Genes, 2023, v. 14, n. 9, p. 1753, doi. 10.3390/genes14091753
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- Article
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
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- Genes, 2023, v. 14, n. 7, p. 1393, doi. 10.3390/genes14071393
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- Article
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
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- Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5
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- Article
Validation of the Italian version of the pediatric CMT quality of life outcome measure.
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- Journal of the Peripheral Nervous System, 2022, v. 27, n. 2, p. 127, doi. 10.1111/jns.12494
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- Article
Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.
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- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-89
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- Article