Found: 76
Select item for more details and to access through your institution.
Parent‐proxy pediatric CMT quality of life outcome measure: Validation of the Italian version.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 1, p. 107, doi. 10.1111/jns.12615
- By:
- Publication type:
- Article
Validation of the Italian version of the pediatric CMT quality of life outcome measure.
- Published in:
- Journal of the Peripheral Nervous System, 2022, v. 27, n. 2, p. 127, doi. 10.1111/jns.12494
- By:
- Publication type:
- Article
Expanding the phenotypic spectrum of TRIM2‐associated Charcot‐Marie‐Tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 4, p. 429, doi. 10.1111/jns.12410
- By:
- Publication type:
- Article
Validation of the Italian version of the Charcot‐Marie‐Tooth disease Pediatric Scale.
- Published in:
- Journal of the Peripheral Nervous System, 2020, v. 25, n. 2, p. 138, doi. 10.1111/jns.12383
- By:
- Publication type:
- Article
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
- Published in:
- Journal of the Peripheral Nervous System, 2016, v. 21, n. 3, p. 142, doi. 10.1111/jns.12175
- By:
- Publication type:
- Article
Nutritional status of children affected by X‐linked adrenoleukodystrophy.
- Published in:
- Journal of Human Nutrition & Dietetics, 2023, v. 36, n. 4, p. 1316, doi. 10.1111/jhn.13173
- By:
- Publication type:
- Article
Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS).
- Published in:
- 2011
- By:
- Publication type:
- Abstract
Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene.
- Published in:
- Acta Myologica, 2017, v. 36, p. 28
- By:
- Publication type:
- Article
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
- Published in:
- 2018
- By:
- Publication type:
- journal article
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5
- By:
- Publication type:
- Article
Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.
- Published in:
- Neurogenetics, 2016, v. 17, n. 3, p. 191, doi. 10.1007/s10048-016-0488-y
- By:
- Publication type:
- Article
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 193, doi. 10.1007/s10048-011-0281-x
- By:
- Publication type:
- Article
Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.
- Published in:
- Current Neurology & Neuroscience Reports, 2016, v. 16, n. 6, p. 1, doi. 10.1007/s11910-016-0656-3
- By:
- Publication type:
- Article
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Erratum to: Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Disease Progression in Charcot–Marie–Tooth Disease Related to MPZ Mutations: A Longitudinal Study.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 3, p. 563, doi. 10.1002/ana.26518
- By:
- Publication type:
- Article
Natural history of Charcot-Marie-Tooth disease during childhood.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Molecular Fingerprint of BMD Patients Lacking a Portion in the Rod Domain of Dystrophin.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2624, doi. 10.3390/ijms23052624
- By:
- Publication type:
- Article
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 15, p. 3621, doi. 10.3390/ijms20153621
- By:
- Publication type:
- Article
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 9, p. 1713, doi. 10.1002/acn3.51145
- By:
- Publication type:
- Article
RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 83, doi. 10.1002/acn3.50960
- By:
- Publication type:
- Article
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
- Published in:
- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00412
- By:
- Publication type:
- Article
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1393, doi. 10.3390/genes14071393
- By:
- Publication type:
- Article
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.565868
- By:
- Publication type:
- Article
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 6, p. 557, doi. 10.1002/ajmg.b.32649
- By:
- Publication type:
- Article
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 1, p. 102, doi. 10.1007/s00415-016-8312-z
- By:
- Publication type:
- Article
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
- Published in:
- Journal of Neurology, 2014, v. 261, n. 3, p. 504, doi. 10.1007/s00415-013-7225-3
- By:
- Publication type:
- Article
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 9, p. 3037, doi. 10.1007/s10072-023-06790-0
- By:
- Publication type:
- Article
Correction to: Kearns‑Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 3, p. 2081, doi. 10.1007/s10072-022-05881-8
- By:
- Publication type:
- Article
Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 7, p. 2637, doi. 10.1007/s10072-021-05252-9
- By:
- Publication type:
- Article
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01357-0
- By:
- Publication type:
- Article
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma.
- Published in:
- Cancer Genomics & Proteomics (1109-6535), 2020, v. 17, n. 2, p. 117, doi. 10.21873/cgp.20172
- By:
- Publication type:
- Article
Sequence and Copy Number Analyses of HEXB Gene in Patients Affected by Sandhoff Disease: Functional Characterization of 9 Novel Sequence Variants.
- Published in:
- PLoS ONE, 2012, v. 7, n. 7, p. 1, doi. 10.1371/journal.pone.0041516
- By:
- Publication type:
- Article
More than an 'atypical' phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy.
- Published in:
- British Journal of Haematology, 2020, v. 191, n. 2, p. 291, doi. 10.1111/bjh.16967
- By:
- Publication type:
- Article
Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.744068
- By:
- Publication type:
- Article
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
- Published in:
- Neuropathology & Applied Neurobiology, 2022, v. 48, n. 7, p. 1, doi. 10.1111/nan.12842
- By:
- Publication type:
- Article
Epileptic phenotypes in children with early‐onset mitochondrial diseases.
- Published in:
- Acta Neurologica Scandinavica, 2019, v. 140, n. 3, p. 184, doi. 10.1111/ane.13130
- By:
- Publication type:
- Article
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
- Published in:
- 2017
- By:
- Publication type:
- journal article
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-123
- By:
- Publication type:
- Article
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study.
- Published in:
- Journal of NeuroEngineering & Rehabilitation (JNER), 2013, v. 10, n. 1, p. 1, doi. 10.1186/1743-0003-10-65
- By:
- Publication type:
- Article
Changes of gait pattern in children with Charcot-Marie-Tooth disease type 1A: a 18 months follow-up study.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Transitioning outcome measures: relationship between the CMTPedS and CMTNSv2 in children, adolescents, and young adults with Charcot-Marie-Tooth disease.
- Published in:
- Journal of the Peripheral Nervous System, 2013, v. 18, n. 2, p. 177, doi. 10.1111/jns5.12024
- By:
- Publication type:
- Article