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Skin innervation across amyotrophic lateral sclerosis clinical stages: new prognostic biomarkers.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1740, doi. 10.1093/brain/awad426
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- Publication type:
- Article
Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy.
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- Neurological Sciences, 2024, v. 45, n. 4, p. 1685, doi. 10.1007/s10072-023-07140-w
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- Publication type:
- Article
Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease.
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- Journal of Neurology, 2023, v. 270, n. 11, p. 5561, doi. 10.1007/s00415-023-11911-y
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- Publication type:
- Article
Correction to: Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Autonomic dysfunction is associated with disease progression and survival in amyotrophic lateral sclerosis: a prospective longitudinal cohort study.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 10, p. 4968, doi. 10.1007/s00415-023-11832-w
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- Publication type:
- Article
Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease.
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- European Journal of Neurology, 2023, v. 30, n. 3, p. 710, doi. 10.1111/ene.15643
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- Publication type:
- Article
Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry.
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- Journal of Neurology, 2023, v. 270, n. 1, p. 394, doi. 10.1007/s00415-022-11365-8
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- Publication type:
- Article
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.
- Published in:
- Brain Communications, 2022, v. 4, n. 5, p. 1, doi. 10.1093/braincomms/fcac224
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- Publication type:
- Article
A compound score to screen patients with hereditary transthyretin amyloidosis.
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- Journal of Neurology, 2022, v. 269, n. 8, p. 4281, doi. 10.1007/s00415-022-11056-4
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- Publication type:
- Article
The impact of symptoms on daily life as perceived by patients with Charcot-Marie-Tooth type 1A disease.
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- Neurological Sciences, 2022, v. 43, n. 1, p. 559, doi. 10.1007/s10072-021-05254-7
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- Publication type:
- Article
Cutaneous sensory and autonomic denervation in progressive supranuclear palsy.
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- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 5, p. 653, doi. 10.1111/nan.12692
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- Publication type:
- Article
Alteration of the late endocytic pathway in Charcot–Marie–Tooth type 2B disease.
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- Cellular & Molecular Life Sciences, 2021, v. 78, n. 1, p. 351, doi. 10.1007/s00018-020-03510-1
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- Publication type:
- Article
Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78578-7
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- Publication type:
- Article
Electrodiagnostic accuracy in polyneuropathies: supervised learning algorithms as a tool for practitioners.
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- Neurological Sciences, 2020, v. 41, n. 12, p. 3719, doi. 10.1007/s10072-020-04499-y
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- Publication type:
- Article
Brainstem involvement and respiratory failure in COVID-19.
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- Neurological Sciences, 2020, v. 41, n. 7, p. 1663, doi. 10.1007/s10072-020-04487-2
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- Publication type:
- Article
Dealing with immune-mediated neuropathies during COVID-19 outbreak: practical recommendations from the task force of the Italian Society of Neurology (SIN), the Italian Society of Clinical Neurophysiology (SINC) and the Italian Peripheral Nervous System Association (ASNP).
- Published in:
- 2020
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- Publication type:
- journal article
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2635, doi. 10.3390/ijms21072635
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- Publication type:
- Article
A Model to Study Myelinated Fiber Degeneration and Regeneration in Human Skin.
- Published in:
- 2020
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- Publication type:
- journal article
Different cortical excitability profiles in hereditary brain iron and copper accumulation.
- Published in:
- 2020
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- Publication type:
- journal article
Insights into the pathogenesis of ATP1A1‐related CMT disease using patient‐specific iPSCs.
- Published in:
- Journal of the Peripheral Nervous System, 2019, v. 24, n. 4, p. 330, doi. 10.1111/jns.12357
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- Publication type:
- Article
Spinocerebellar ataxia type 2-neuronopathy or neuropathy?
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- 2019
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- Publication type:
- journal article
A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00580
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- Publication type:
- Article
A novel family with axonal Charcot‐Marie‐Tooth disease caused by a mutation in the EGR2 gene.
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- Journal of the Peripheral Nervous System, 2019, v. 24, n. 2, p. 219, doi. 10.1111/jns.12314
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- Publication type:
- Article
RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.
- Published in:
- BioMed Research International, 2019, p. 1, doi. 10.1155/2019/7638946
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- Publication type:
- Article
Six-minute walk test is reliable and sensitive in detecting response to therapy in CIDP.
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- Journal of Neurology, 2019, v. 266, n. 4, p. 860, doi. 10.1007/s00415-019-09207-1
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- Publication type:
- Article
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise".
- Published in:
- 2018
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- Publication type:
- letter
Small fiber pathology parallels disease progression in Parkinson disease: a longitudinal study.
- Published in:
- Acta Neuropathologica, 2018, v. 136, n. 3, p. 501, doi. 10.1007/s00401-018-1876-1
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- Publication type:
- Article
A novel SCN9A splicing mutation in a compound heterozygous girl with congenital insensitivity to pain, hyposmia and hypogeusia.
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- Journal of the Peripheral Nervous System, 2018, v. 23, n. 3, p. 202, doi. 10.1111/jns.12280
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- Publication type:
- Article
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report.
- Published in:
- 2018
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- Publication type:
- journal article
One-year follow up of three Italian patients with Duchenne muscular dystrophy treated with ataluren: is earlier better?
- Published in:
- Therapeutic Advances in Neurological Disorders, 2018, v. 11, p. 1, doi. 10.1177/1756286418809588
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- Publication type:
- Article
Early predictive factors of disability in CIDP.
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- Journal of Neurology, 2017, v. 264, n. 9, p. 1939, doi. 10.1007/s00415-017-8578-9
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- Publication type:
- Article
Does motor cortex plasticity depend on the type of mutation in the leucine-rich repeat kinase 2 gene?
- Published in:
- 2017
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- Publication type:
- letter
The occurrence of lateral shift in cervical dystonia.
- Published in:
- 2017
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- Publication type:
- journal article
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings.
- Published in:
- 2017
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- Publication type:
- Letter
Epidermal innervation morphometry by immunofluorescence and bright-field microscopy.
- Published in:
- Journal of the Peripheral Nervous System, 2015, v. 20, n. 4, p. 387, doi. 10.1111/jns.12146
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- Publication type:
- Article
Short-latency afferent inhibition in patients with Parkinson's disease and freezing of gait.
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- Journal of Neural Transmission, 2015, v. 122, n. 11, p. 1533, doi. 10.1007/s00702-015-1428-y
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- Publication type:
- Article
Differential myelinated and unmyelinated sensory and autonomic skin nerve fiber involvement in patients with ophthalmic postherpetic neuralgia.
- Published in:
- Frontiers in Neuroanatomy, 2015, v. 9, p. 1, doi. 10.3389/fnana.2015.00105
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- Publication type:
- Article
Chronic inflammatory demyelinating polyneuropathy mimicking an acute painful diabetic neuropathy.
- Published in:
- 2015
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- Publication type:
- Letter
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 7, p. 1728, doi. 10.1007/s00415-015-7757-9
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- Publication type:
- Article
Intraepidermal nerve fiber analysis using immunofluorescence with and without confocal microscopy.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 4, p. 501, doi. 10.1002/mus.24338
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- Publication type:
- Article
Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 4, p. 604, doi. 10.1002/mus.24467
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- Publication type:
- Article
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
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- Journal of the Peripheral Nervous System, 2014, v. 19, n. 4, p. 292, doi. 10.1111/jns.12092
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- Publication type:
- Article
PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot–Marie–Tooth 1A biomarker.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1614, doi. 10.1093/brain/awu071
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- Publication type:
- Article
PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarker.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?
- Published in:
- Journal of Neurology, 2014, v. 261, n. 4, p. 804, doi. 10.1007/s00415-014-7282-2
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- Publication type:
- Article
The combined treatment with orbital and pretarsal botulinum toxin injections in the management of poorly responsive blepharospasm.
- Published in:
- Neurological Sciences, 2014, v. 35, n. 3, p. 397, doi. 10.1007/s10072-013-1526-2
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- Publication type:
- Article
Gender differences in non-motor symptoms in early, drug naïve Parkinson's disease.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 11, p. 2849, doi. 10.1007/s00415-013-7085-x
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- Publication type:
- Article
Anti-GAD antibody ocular flutter: expanding the spectrum of autoimmune ocular motor disorders.
- Published in:
- 2013
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- Publication type:
- Letter
Neuropathy and levodopa in Parkinson's disease: Evidence from a multicenter study.
- Published in:
- Movement Disorders, 2013, v. 28, n. 10, p. 1391, doi. 10.1002/mds.25585
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- Publication type:
- Article
Somatosensory Temporal Discrimination Threshold Is Increased in Patients with Cerebellar Atrophy.
- Published in:
- Cerebellum, 2013, v. 12, n. 4, p. 456, doi. 10.1007/s12311-012-0435-x
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- Publication type:
- Article