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Natural history of Charcot-Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life.
- Published in:
- 2010
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- Publication type:
- journal article
Natural history of Charcot–Marie-Tooth 2: 2-year follow-up of muscle strength, walking ability and quality of life.
- Published in:
- Neurological Sciences, 2010, v. 31, n. 2, p. 175, doi. 10.1007/s10072-009-0202-z
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- Publication type:
- Article
Late-onset sporadic ataxia, pontine lesion, and retroperitoneal fibrosis: a case of Erdheim-Chester disease.
- Published in:
- Neurological Sciences, 2008, v. 29, n. 4, p. 263, doi. 10.1007/s10072-008-0978-2
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- Publication type:
- Article
Relationship between clinical examination, Quality of Life, disability and depression in CMT patients: Italian Multicenter study.
- Published in:
- Neurological Sciences, 2008, v. 29, n. 3, p. 157, doi. 10.1007/s10072-008-0928-z
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- Publication type:
- Article
Variables influencing quality of life and disability in Charcot Marie Tooth (CMT) patients: Italian multicentre study.
- Published in:
- Neurological Sciences, 2006, v. 27, n. 6, p. 417, doi. 10.1007/s10072-006-0722-8
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- Publication type:
- Article
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families.
- Published in:
- Neurological Sciences, 2004, v. 25, n. 3, p. 130, doi. 10.1007/s10072-004-0246-z
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- Publication type:
- Article
Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies.
- Published in:
- 2004
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- Publication type:
- journal article
Parenchymatous neurosyphilis.
- Published in:
- Neurological Sciences, 2001, v. 22, n. 3, p. 281, doi. 10.1007/s100720100013
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- Publication type:
- Article
Spinal cord lesion due to epidural anesthesia.
- Published in:
- 2000
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- Publication type:
- Case Study
Chronic inflammatory demyelinating polyradiculoneuropathy: long-term course and treatment of 60 patients.
- Published in:
- 2000
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- Publication type:
- journal article
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
- Published in:
- Clinical Genetics, 2007, v. 72, n. 5, p. 427, doi. 10.1111/j.1399-0004.2007.00869.x
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- Publication type:
- Article
Nerve conduction velocity in CMT1A: what else can we tell?
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 10, p. 1566, doi. 10.1111/ene.13079
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- Publication type:
- Article
Novel outcome measures for Charcot−Marie−Tooth disease: validation and reliability of the 6-min walk test and StepWatch<sup>™</sup> Activity Monitor and identification of the walking features related to higher quality of life.
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 8, p. 1343, doi. 10.1111/ene.13033
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- Publication type:
- Article
No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 6, p. 1134, doi. 10.1111/ene.13001
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- Publication type:
- Article
Responsiveness of clinical outcome measures in Charcot−Marie−Tooth disease.
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- European Journal of Neurology, 2015, v. 22, n. 12, p. 1556, doi. 10.1111/ene.12783
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- Publication type:
- Article
Quality of life is not impaired in patients with hereditary neuropathy with liability to pressure palsies.
- Published in:
- 2007
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- Publication type:
- Letter
A reply.
- Published in:
- Anaesthesia, 1990, v. 45, n. 4, p. 340, doi. 10.1111/j.1365-2044.1990.tb14758.x
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- Publication type:
- Article
Spinal arteriovenous fistula. A possible cause of paraparesis after epidural anaesthesia.
- Published in:
- 1989
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- Publication type:
- journal article
Spinal arteriovenous fistula.
- Published in:
- Anaesthesia, 1989, v. 44, n. 10, p. 831, doi. 10.1111/j.1365-2044.1989.tb09101.x
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- Publication type:
- Article
Epidural anaesthesia and spinal arachnoiditis.
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- Anaesthesia, 1989, v. 44, n. 4, p. 317, doi. 10.1111/j.1365-2044.1989.tb11285.x
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- Publication type:
- Article
Epidermal nerve fiber density in sensory ganglionopathies: clinical and neurophysiologic correlations.
- Published in:
- 2001
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- Publication type:
- journal article
Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis.
- Published in:
- 1999
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- Publication type:
- journal article
Detection of hereditary neuropathy with liability to pressure palsies among patients with acute painless mononeuropathy or plexopathy.
- Published in:
- 1998
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- Publication type:
- journal article
Seventeenth Meeting of the European Neurological Society 16–20 June 2007, Rhodes, Greece.
- Published in:
- 2007
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- Publication type:
- Abstract
Deletion of exons 11–17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.
- Published in:
- Journal of Neurology, 2000, v. 247, n. 11, p. 875, doi. 10.1007/s004150070076
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- Publication type:
- Article
Heterozygous Null Mutation in the P<sub>0</sub> Gene Associated with Mild Charcot-Marie-Tooth Disease.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 477, doi. 10.1111/j.1749-6632.1999.tb08615.x
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- Publication type:
- Article
Neurologic symptoms after epidural anaesthesia. Report of three cases.
- Published in:
- 1994
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- Publication type:
- journal article
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.
- Published in:
- NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 3, doi. 10.1385/nmm:8:1-2:3
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- Publication type:
- Article
IgM deposits on skin nerves in anti-myelin-associated glycoprotein neuropathy.
- Published in:
- 2005
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- Publication type:
- Journal Article
Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 11, p. 2629, doi. 10.1007/s00415-019-09453-3
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- Publication type:
- Article
Pendular nystagmus in progressive ataxia and palatal tremor.
- Published in:
- 2011
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- Publication type:
- Letter
Treadmill training in patients affected by Charcot–Marie–Tooth neuropathy: results of a multicenter, prospective, randomized, single‐blind, controlled study.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 2, p. 280, doi. 10.1111/ene.14074
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- Publication type:
- Article
Longitudinal quantitative magnetic resonance imaging in adrenomyeloneuropathy.
- Published in:
- European Journal of Neurology, 2019, v. 26, n. 10, p. 1341, doi. 10.1111/ene.13959
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- Publication type:
- Article
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
- Published in:
- European Journal of Neurology, 2018, v. 25, n. 1, p. 154, doi. 10.1111/ene.13478
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- Publication type:
- Article
Partial laminin alpha2 chain deficiency in a patient with myopathy resembling inclusion body myositis.
- Published in:
- 2000
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- Publication type:
- journal article
Clinical and magnetic resonance imaging findings in chronic sensory ganglionopathies.
- Published in:
- 2000
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- Publication type:
- Journal Article
A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
- Published in:
- 1998
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- Publication type:
- journal article
CMTX: heterozygosity for a GJB1/CX32 mutation in a XXY male results in a mild phenotype.
- Published in:
- 2004
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- Publication type:
- Abstract
An unusual cosegregation of cmt1a duplication and hnpp PMP22 point mutation in a family with CMT1 disease.
- Published in:
- 2004
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- Publication type:
- Abstract
Molecular analysis of the litaf/simple and prx genes in patients with demyelinating charcot-marie-tooth (CMT) disease.
- Published in:
- 2004
- By:
- Publication type:
- Abstract
Influence of gender and pregnancy on CMT1A.
- Published in:
- 2004
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- Publication type:
- Abstract
Painful diabetic neuropathy (pdn): a morphological study of capsaicin receptor distribution.
- Published in:
- 2004
- By:
- Publication type:
- Abstract
Poems syndrome: role of two angiogenic factors, VEGF and EPO.
- Published in:
- 2004
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- Publication type:
- Abstract
ATYPICAL DEMYELINATING CHARCOT-MARIE-TOOTH DISEASE AND MYELIN GENE MUTATIONS.
- Published in:
- Journal of the Peripheral Nervous System, 2000, v. 5, n. 1, p. 47, doi. 10.1046/j.1529-8027.2000.00513-46.x
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- Publication type:
- Article
CLINICAL, MRI, AND SKIN BIOPSY FINDINGS IN SENSORY GANGLIONOPATHIES.
- Published in:
- Journal of the Peripheral Nervous System, 2000, v. 5, n. 1, p. 50, doi. 10.1046/j.1529-8027.2000.00513-58.x
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- Publication type:
- Article