Found: 28
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A new de novo SYT2 mutation presenting as distal weakness. Neuropathy or neuromuscular junction dysfunction?
- Published in:
- Journal of the Peripheral Nervous System, 2021, v. 26, n. 1, p. 113, doi. 10.1111/jns.12425
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- Publication type:
- Article
Severe exacerbation of Andersen-Tawil syndrome secondary to thyrotoxicosis.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 8, p. 465, doi. 10.1038/jhg.2014.43
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- Publication type:
- Article
Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 3, p. 749, doi. 10.1093/hmg/ddt460
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- Publication type:
- Article
Cortical microstructure in the behavioural variant of frontotemporal dementia: looking beyond atrophy.
- Published in:
- 2019
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- Publication type:
- journal article
APP‐derived peptides reflect neurodegeneration in frontotemporal dementia.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 12, p. 2518, doi. 10.1002/acn3.50948
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- Publication type:
- Article
Transcriptome characterization of the motor cortex suggests microglial‐related key events due to TDP‐43 aberrant inclusions: Genetics: Molecular genetics of AD and ADRD.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2020, v. 16, n. 11, p. 1, doi. 10.1002/alz.042953
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- Publication type:
- Article
P3‐394: CORTICAL MEAN DIFFUSIVITY MAY BE MORE SENSITIVE IN DETECTING STRUCTURAL CHANGES IN FRONTOTEMPORAL DEMENTIA THAN CORTICAL THICKNESS.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, p. P1248, doi. 10.1016/j.jalz.2018.06.1756
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- Publication type:
- Article
CORTICAL MICROSTRUCTURAL CHANGES IN FRONTOTEMPORAL LOBAR DEGENERATION: A NEW IMAGING BIOMARKER.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2017, v. 13, p. P1533, doi. 10.1016/j.jalz.2017.07.667
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- Publication type:
- Article
Inter-laboratory comparison of routine autoantibody detection methods for autoimmune neuropathies and myasthenia gravis.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 7, p. 4119, doi. 10.1007/s00415-024-12317-0
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- Publication type:
- Article
Absence of HINT1 mutations in a UK and Spanish cohort of patients with inherited neuropathies.
- Published in:
- 2015
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- Publication type:
- Letter
Analysis of Serum miRNA Profiles of Myasthenia Gravis Patients.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091927
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- Publication type:
- Article
The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo.
- Published in:
- Journal of Pathology, 2012, v. 228, n. 4, p. 544, doi. 10.1002/path.4083
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- Publication type:
- Article
Neuromuscular dysfunction in adult growth hormone deficiency.
- Published in:
- Clinical Endocrinology, 2003, v. 59, n. 4, p. 450, doi. 10.1046/j.1365-2265.2003.01866.x
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- Publication type:
- Article
Antibodies against the flotillin-1/2 complex in patients with multiple sclerosis.
- Published in:
- Brain Communications, 2023, v. 5, n. 2, p. 1, doi. 10.1093/braincomms/fcad109
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- Publication type:
- Article
Clinical and serological features of acute sensory ataxic neuropathy with antiganglioside antibodies.
- Published in:
- Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 158, doi. 10.1111/j.1529-8027.2012.00407.x
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- Publication type:
- Article
Author Correction: Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Autoantibody screening in Guillain-Barré syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Distinct Clinical Features and Outcomes in Motor Neuron Disease Associated with Behavioural Variant Frontotemporal Dementia.
- Published in:
- Dementia & Geriatric Cognitive Disorders, 2018, v. 45, n. 3/4, p. 220, doi. 10.1159/000488528
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- Publication type:
- Article
Validation of a Set of Instruments to Assess Patient- and Caregiver-Oriented Measurements in Spinal Muscular Atrophy: Results of the SMA-TOOL Study.
- Published in:
- Neurology & Therapy, 2023, v. 12, n. 1, p. 89, doi. 10.1007/s40120-022-00411-2
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- Publication type:
- Article
Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain.
- Published in:
- 2015
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- Publication type:
- letter
Analysis of the C 9orf72 Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 79, doi. 10.1002/humu.22211
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- Publication type:
- Article
Prednisone can worsen ataxic neuropathy with anti-disialosyl IgM antibodies.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 5, p. 839, doi. 10.1002/mus.22172
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- Publication type:
- Article
Response to methotrexate in a chronic inflammatory demyelinating polyradiculoneuropathy patient.
- Published in:
- Muscle & Nerve, 2009, v. 39, n. 3, p. 386, doi. 10.1002/mus.21171
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- Publication type:
- Article
Clinical Characteristics of Patients With Double-Seronegative Myasthenia Gravis and Antibodies to Cortactin.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 9, p. 1099, doi. 10.1001/jamaneurol.2016.2032
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- Publication type:
- Article
Pathophysiological Underpinnings of Extra-Motor Neurodegeneration in Amyotrophic Lateral Sclerosis: New Insights From Biomarker Studies.
- Published in:
- Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2021.750543
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- Publication type:
- Article
Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 4, p. 1334, doi. 10.1111/ene.14700
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- Publication type:
- Article
Motor neuron involvement expands the neuropathological phenotype of late‐onset ataxia in RFC1 mutation (CANVAS).
- Published in:
- Brain Pathology, 2022, v. 32, n. 4, p. 1, doi. 10.1111/bpa.13051
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- Publication type:
- Article
Cognitive decline in amyotrophic lateral sclerosis: Neuropathological substrate and genetic determinants.
- Published in:
- Brain Pathology, 2021, v. 31, n. 3, p. 1, doi. 10.1111/bpa.12942
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- Publication type:
- Article