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Conduction slowing, conduction block and temporal dispersion in demyelinating, dysmyelinating and axonal neuropathies: Electrophysiology meets pathology.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 135, doi. 10.1111/jns.12625
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- Publication type:
- Article
Featured Cover.
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- Journal of the Peripheral Nervous System, 2021, v. 26, p. i, doi. 10.1111/jns.12475
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- Publication type:
- Article
Hereditary neuropathies: A pathological perspective.
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- Journal of the Peripheral Nervous System, 2021, v. 26, p. S42, doi. 10.1111/jns.12467
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- Publication type:
- Article
Acute and chronic inflammatory neuropathies and COVID‐19 vaccines: Practical recommendations from the task force of the Italian Peripheral Nervous System Association (ASNP).
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- Journal of the Peripheral Nervous System, 2021, v. 26, n. 2, p. 148, doi. 10.1111/jns.12435
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- Publication type:
- Article
Convergent pathological and ultrasound features in hereditary syndromic and non‐syndromic minifascicular neuropathy related to DHH.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 4, p. 423, doi. 10.1111/jns.12417
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- Publication type:
- Article
Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags.
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- Journal of the Peripheral Nervous System, 2020, v. 25, n. 1, p. 19, doi. 10.1111/jns.12362
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- Publication type:
- Article
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.
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- Cells (2073-4409), 2020, v. 9, n. 4, p. 1028, doi. 10.3390/cells9041028
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- Publication type:
- Article
Rare among Rare: Phenotypes of Uncommon CMT Genotypes.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 12, p. 1616, doi. 10.3390/brainsci11121616
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- Publication type:
- Article
Clinical and pathological correlations in Charcot-Marie-Tooth neuropathy type 1A with the 17p11.2p12 duplication: a cross-sectional morphometric and immunohistochemical study in twenty cases.
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- 1998
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- Publication type:
- journal article
Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review.
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- Hormone Research in Paediatrics, 2018, v. 89, n. 3, p. 141, doi. 10.1159/000485507
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- Publication type:
- Article
Correction to: Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease.
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- 2023
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- Publication type:
- Correction Notice
Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 11, p. 5561, doi. 10.1007/s00415-023-11911-y
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- Publication type:
- Article
Magnetic resonance neurography and diffusion tensor imaging of the sciatic nerve in hereditary transthyretin amyloidosis polyneuropathy.
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- Journal of Neurology, 2023, v. 270, n. 10, p. 4827, doi. 10.1007/s00415-023-11813-z
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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
Association between inflammatory central nervous system lesions and Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS): a case series.
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- Journal of Neurology, 2022, v. 269, n. 10, p. 5668, doi. 10.1007/s00415-022-11184-x
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- Publication type:
- Article
Progressive brachial plexus enlargement in hereditary transthyretin amyloidosis.
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- Journal of Neurology, 2022, v. 269, n. 4, p. 1905, doi. 10.1007/s00415-021-10754-9
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- Publication type:
- Article
RFC1 AAGGG repeat expansion masquerading as Chronic Idiopathic Axonal Polyneuropathy.
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- Journal of Neurology, 2021, v. 268, n. 11, p. 4280, doi. 10.1007/s00415-021-10552-3
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- Publication type:
- Article
High-dose immunoglobulin pulse therapy and risk of Covid19 infection.
- Published in:
- 2021
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- Publication type:
- Letter
Nerve ultrasound in hereditary transthyretin amyloidosis: red flags and possible progression biomarkers.
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- Journal of Neurology, 2021, v. 268, n. 1, p. 189, doi. 10.1007/s00415-020-10127-8
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- Publication type:
- Article
Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis.
- Published in:
- 2012
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- Publication type:
- Letter
Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy.
- Published in:
- Neurological Sciences, 2024, v. 45, n. 9, p. 4563, doi. 10.1007/s10072-024-07494-9
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- Publication type:
- Article
CIDP, CMT1B, or CMT1B plus CIDP?
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- Neurological Sciences, 2021, v. 42, n. 3, p. 1127, doi. 10.1007/s10072-020-04789-5
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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
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.
- Published in:
- 2020
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- Publication type:
- journal article
Charcot-Marie-Tooth 2F: phenotypic presentation of the Arg136Leu HSP27 mutation in a multigenerational family.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 6, p. 1003, doi. 10.1007/s10072-014-2050-8
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- Publication type:
- Article
A novel LITAF/SIMPLE variant within a family with minimal demyelinating Charcot-Marie-Tooth disease.
- Published in:
- 2014
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- Publication type:
- Letter
Considerable post-partum worsening in a patient with CMT2E.
- Published in:
- 2013
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- Publication type:
- Letter
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 223, doi. 10.1038/90058
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- Publication type:
- Article
A conserved sorting-associated protein is mutant in chorea-acanthocytosis.
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- Nature Genetics, 2001, v. 28, n. 2, p. 119, doi. 10.1038/88821
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- Publication type:
- Article
Aberrant Splicing in GJB1 and the Relevance of 5′ UTR in CMTX1 Pathogenesis.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 24, doi. 10.3390/brainsci11010024
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- Publication type:
- Article
hATTR Pathology: Nerve Biopsy Results from Italian Referral Centers.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 780, doi. 10.3390/brainsci10110780
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- Publication type:
- Article
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1199, doi. 10.1007/s10545-011-9332-6
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- Publication type:
- Article
Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic phenotype.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 4, p. 414, doi. 10.1111/j.1529-8027.2012.00441.x
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- Publication type:
- Article
Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 4, p. 407, doi. 10.1111/j.1529-8027.2012.00439.x
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- Publication type:
- Article
Autonomic nervous system involvement in a new CMT2B family.
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- Journal of the Peripheral Nervous System, 2012, v. 17, n. 3, p. 361, doi. 10.1111/j.1529-8027.2012.00415.x
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- Publication type:
- Article
Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients.
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- Journal of the Peripheral Nervous System, 2011, v. 16, n. 2, p. 119, doi. 10.1111/j.1529-8027.2011.00331.x
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- Publication type:
- Article
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.
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- Journal of the Peripheral Nervous System, 2011, v. 16, n. 1, p. 59, doi. 10.1111/j.1529-8027.2011.00319.x
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- Publication type:
- Article
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene.
- Published in:
- 2011
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- Publication type:
- Journal Article
Reply: Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot–Marie–Tooth disease.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e218, doi. 10.1093/brain/aws035
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- Publication type:
- Article
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. 2664, doi. 10.1093/brain/awr184
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- Publication type:
- Article
Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 2, p. 608, doi. 10.1093/brain/awq374
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- Publication type:
- Article
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
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- 2007
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- Publication type:
- journal article
Charcot–Marie–Tooth disease type 2E, a disorder of the cytoskeleton.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 2, p. 394, doi. 10.1093/brain/awl284
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- Publication type:
- Article
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0.
- Published in:
- Journal of Neurology, 2002, v. 249, n. 9, p. 1298, doi. 10.1007/s00415-002-0810-5
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- Publication type:
- Article
Heteroplasmy of the A3243G transition of mitochondrial tRNA<sup>Leu(UUR)</sup> in a MELAS case and in a 25-week-old miscarried fetus.
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- Journal of Neurology, 2000, v. 247, n. 11, p. 885, doi. 10.1007/s004150070080
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- Publication type:
- Article
Neuronal intranuclear inclusion disease: Polymerase chain reaction and ultrastructural study of rectal biopsy specimen in a new case.
- Published in:
- Acta Neuropathologica, 1996, v. 91, n. 2, p. 215, doi. 10.1007/s004010050417
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- Publication type:
- Article
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca<sup>2+</sup> signalling.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 17, p. 3741, doi. 10.1093/hmg/ddw220
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- Publication type:
- Article
Neuropathic pain in Charcot–Marie‐Tooth disease: A clinical and laser‐evoked potential study.
- Published in:
- European Journal of Pain, 2022, v. 26, n. 4, p. 929, doi. 10.1002/ejp.1922
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- Publication type:
- Article
Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy.
- Published in:
- 2021
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- Publication type:
- journal article
Peripheral nerve enlargement on nerve ultrasound parallels neuropathological changes in adult‐onset Krabbe disease.
- Published in:
- Muscle & Nerve, 2021, v. 63, n. 4, p. E33, doi. 10.1002/mus.27175
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- Publication type:
- Article