Found: 66
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Pes cavus and hereditary neuropathies: when a relationship should be suspected.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Selective techniques of apheresis in polyneuropathy associated with monoclonal gammopathy of undetermined significance.
- Published in:
- Acta Neurologica Scandinavica, 1994, v. 89, n. 2, p. 117, doi. 10.1111/j.1600-0404.1994.tb01646.x
- By:
- Publication type:
- Article
The role of the tactile-pressure afferents in the habituation phenomenon of trigemino-facial reflex.
- Published in:
- Acta Neurologica Scandinavica, 1985, v. 72, n. 6, p. 602, doi. 10.1111/j.1600-0404.1985.tb00920.x
- By:
- Publication type:
- Article
Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient.
- Published in:
- 2023
- By:
- Publication type:
- Letter
Ophthalmopathy in chronic inflammatory demyelinating polyradiculoneuropathy: a case report.
- Published in:
- 2023
- By:
- Publication type:
- Letter
Recurrent esophageal stricture from previous caustic ingestion treated with 40-year self-dilation: case report and review of literature.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Interventions for Improving Interdialytic Weight Gains in At-Risk Patients on Hemodialysis at NYU-Winthrop Dialysis Center - What Works?
- Published in:
- Nephrology Nursing Journal, 2018, v. 45, n. 1, p. 83
- By:
- Publication type:
- Article
Evaluation of cytogenetic and DNA damage in mitochondrial disease patients: effects of coenzyme Q10 therapy.
- Published in:
- Mutagenesis, 2004, v. 19, n. 1, p. 43, doi. 10.1093/mutage/geg036
- By:
- Publication type:
- Article
Dissection and atherosclerosis of carotid arteries in the young: role of the apolipoprotein E polymorphism.
- Published in:
- European Journal of Neurology, 2002, v. 9, n. 1, p. 19, doi. 10.1046/j.1468-1331.2002.00340.x
- By:
- Publication type:
- Article
Clinical and electrophysiological reports in a case of early onset myotonia congenita (Thomsen's disease) successfully treated with mexiletine.
- Published in:
- 1992
- By:
- Publication type:
- journal article
Altered surface myoelectric signals in peripheral vascular disease: correlations with muscle fiber composition.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia.
- Published in:
- 1996
- By:
- Publication type:
- journal article
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
- Published in:
- Case Reports in Neurological Medicine, 2019, p. 1, doi. 10.1155/2019/5918632
- By:
- Publication type:
- Article
Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene.
- Published in:
- Case Reports in Neurological Medicine, 2018, p. 1, doi. 10.1155/2018/8406712
- By:
- Publication type:
- Article
Adult-onset mitochondrial movement disorders: a national picture from the Italian Network.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 3, p. 1413, doi. 10.1007/s00415-021-10697-1
- By:
- Publication type:
- Article
Oxidative stress biomarkers in Fabry disease: is there a room for them?
- Published in:
- Journal of Neurology, 2020, v. 267, n. 12, p. 3741, doi. 10.1007/s00415-020-10044-w
- By:
- Publication type:
- Article
The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread.
- Published in:
- Journal of Neurology, 2014, v. 261, p. 528, doi. 10.1007/s00415-014-7387-7
- By:
- Publication type:
- Article
1180 Integrated Backscatter Analysis detects early systolic functional and structural left ventricular alterations in patients with type-1 myotonic distrophy
- Published in:
- 2006
- By:
- Publication type:
- Abstract
1163 Contribution of myocardial performance index to assessment of left ventricular function in patients with type-1 myotonic distrophy
- Published in:
- 2006
- By:
- Publication type:
- Abstract
Catatonia as prominent feature of stroke-like episode in MELAS.
- Published in:
- 2021
- By:
- Publication type:
- letter
Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
- Published in:
- Neurological Sciences, 2006, v. 27, n. 2, p. 134, doi. 10.1007/s10072-006-0615-x
- By:
- Publication type:
- Article
Oxcarbazepine is effective and safe in the treatment of neuropathic pain: pooled analysis of seven clinical studies.
- Published in:
- Neurological Sciences, 2005, v. 26, n. 4, p. 218, doi. 10.1007/s10072-005-0464-z
- By:
- Publication type:
- Article
Mitochondria, Cognitive Impairment, and Alzheimer's Disease.
- Published in:
- International Journal of Alzheimer's Disease, 2009, v. 2009, p. 1, doi. 10.4061/2009/951548
- By:
- Publication type:
- Article
Tetracycline treatment in patients with progressive external ophthalmoplegia.
- Published in:
- Acta Neurologica Scandinavica, 2011, v. 124, n. 6, p. 417, doi. 10.1111/j.1600-0404.2011.01536.x
- By:
- Publication type:
- Article
From mild cognitive impairment to dementia: a prevalence study in a district of Tuscany, Italy.
- Published in:
- Acta Neurologica Scandinavica, 2005, v. 112, n. 2, p. 65, doi. 10.1111/j.1600-0404.2005.00444.x
- By:
- Publication type:
- Article
A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation.
- Published in:
- 2004
- By:
- Publication type:
- Book Review
Effects of grating spatial orientation on visual evoked potentials and contrast sensitivity in multiple sclerosis.
- Published in:
- Acta Neurologica Scandinavica, 2001, v. 103, n. 2, p. 97, doi. 10.1034/j.1600-0404.2001.103002097.x
- By:
- Publication type:
- Article
EFNS nuorodos dėl besimptomio ar nedaug simptomų sukeliančio kreatinkinazės kiekio paidėjimmy kraujyje diagnostikos.
- Published in:
- Neurologijos Seminarai, 2010, v. 14, n. 3, p. 216
- By:
- Publication type:
- Article
Astrocyte–neuron interactions in neurological disorders.
- Published in:
- Journal of Biological Physics, 2009, v. 35, n. 4, p. 317, doi. 10.1007/s10867-009-9157-9
- By:
- Publication type:
- Article
Pes cavus and hereditary neuropathies: when a relationship should be suspected.
- Published in:
- Journal of Orthopaedics & Traumatology, 2010, v. 11, n. 4, p. 195, doi. 10.1007/s10195-010-0114-y
- By:
- Publication type:
- Article
Clinical open-label study for evaluation of efficacy and tolerability of oxcarbazepine in the treatment of neuropathic pain.
- Published in:
- 2004
- By:
- Publication type:
- Abstract
A NOVEL MUTATION OF CONNEXIN-32 GENE IN A CMTX ITALIAN FAMILY.
- Published in:
- Journal of the Peripheral Nervous System, 2000, v. 5, n. 1, p. 51, doi. 10.1046/j.1529-8027.2000.00513-59.x
- By:
- Publication type:
- Article
Cytogenetic damage in peripheral lymphocytes of mitochondrial disease patients.
- Published in:
- Neurological Sciences, 2000, v. 21, p. S963, doi. 10.1007/s100720070010
- By:
- Publication type:
- Article
Potential involvement of ubiquinone in myotonic dystrophy pathophysiology: new diagnostic approaches for new rationale therapeutics.
- Published in:
- Neurological Sciences, 2000, v. 21, p. S979, doi. 10.1007/s100720070014
- By:
- Publication type:
- Article
Long-term treatment with idebenone and riboflavin in a patient with MELAS.
- Published in:
- Neurological Sciences, 2000, v. 21, p. S981, doi. 10.1007/s100720070015
- By:
- Publication type:
- Article
Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies.
- Published in:
- Neurological Sciences, 2000, v. 21, p. S985, doi. 10.1007/s100720070017
- By:
- Publication type:
- Article
Long-term treatment with idebenone and riboflavin in a patient with MELAS.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Inclusion body myopathy associated with motor neuron syndrome: three case reports.
- Published in:
- Clinical Neuropathology, 2005, v. 24, n. 1, p. 36
- By:
- Publication type:
- Article
Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions.
- Published in:
- 2006
- By:
- Publication type:
- Journal Article
Auditory neuropathy in a patient with mitochondrial myopathy and multiple mtDNA deletions.
- Published in:
- Journal of Laryngology & Otology, 2006, v. 120, n. 10, p. 888, doi. 10.1017/S0022215106001472
- By:
- Publication type:
- Article
Multiple mtDNA deletions: Clinical and molecular correlations.
- Published in:
- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 2, p. 155, doi. 10.1023/A:1005617916260
- By:
- Publication type:
- Article
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?
- Published in:
- Human Mutation, 2004, v. 24, n. 1, p. 52, doi. 10.1002/humu.20058
- By:
- Publication type:
- Article
Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
- Published in:
- Human Mutation, 2001, v. 18, n. 1, p. 32, doi. 10.1002/humu.1147
- By:
- Publication type:
- Article
ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
- Published in:
- Journal of Physiology, 2015, v. 593, n. 18, p. 4181, doi. 10.1113/JP270358
- By:
- Publication type:
- Article
Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 8, p. 1785, doi. 10.1093/brain/awh201
- By:
- Publication type:
- Article
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 5, p. 952, doi. 10.1007/s00415-011-6293-5
- By:
- Publication type:
- Article
Cardiac magnetic resonance imaging and management of dilated cardiomyopathy in a Duchenne muscular dystrophy manifesting carrier.
- Published in:
- Journal of Neurology, 2009, v. 256, n. 2, p. 283, doi. 10.1007/s00415-009-0055-7
- By:
- Publication type:
- Article