Found: 22
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Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Reply.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Letter to the Editor on "Copathology in Progressive Supranuclear Palsy: Does It Matter?".
- Published in:
- 2020
- By:
- Publication type:
- Letter
Late‐onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations.
- Published in:
- Movement Disorders Clinical Practice, 2018, v. 5, n. 6, p. 645, doi. 10.1002/mdc3.12668
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- Publication type:
- Article
Adult polyglucosan body disease—an atypical compound heterozygous with a novel GBE1 mutation.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 7, p. 2955, doi. 10.1007/s10072-021-05096-3
- By:
- Publication type:
- Article
PARK2 presenting as a disabling peripheral axonal neuropathy.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.01038
- By:
- Publication type:
- Article
DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology.
- Published in:
- 2016
- By:
- Publication type:
- journal article
CADASIL: MRI may be normal in the fourth decade of life - a case report.
- Published in:
- 2016
- By:
- Publication type:
- journal article
New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 6, p. 305, doi. 10.1038/jhg.2015.20
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- Publication type:
- Article
Intellectual disability genomics: current state, pitfalls and future challenges.
- Published in:
- BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-08227-4
- By:
- Publication type:
- Article
Patterns of Microglial Cell Activation in Alzheimer Disease and Frontotemporal Lobar Degeneration.
- Published in:
- Neurodegenerative Diseases, 2017, v. 17, n. 4/5, p. 145, doi. 10.1159/000457127
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- Publication type:
- Article
Acute hemorrhagic leukoencephalitis with severe brainstem and spinal cord involvement: MRI features with neuropathological confirmation.
- Published in:
- Journal of Magnetic Resonance Imaging, 2011, v. 33, n. 4, p. 957, doi. 10.1002/jmri.22505
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- Publication type:
- Article
Hereditary Neuropathy with Liability to Pressure Palsy: A Recurrent and Bilateral Foot Drop Case Report.
- Published in:
- Case Reports in Pediatrics, 2013, p. 1, doi. 10.1155/2013/230541
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- Publication type:
- Article
Relapsing-Remitting Tumefactive Demyelination.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 3, p. 366, doi. 10.1001/jamaneurol.2013.5
- By:
- Publication type:
- Article
Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB.
- Published in:
- Clinical Case Reports, 2020, v. 8, n. 12, p. 2476, doi. 10.1002/ccr3.3146
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- Publication type:
- Article
Acute Ischemic Stroke Secondary to Glioblastoma: A Case Report.
- Published in:
- Neuroradiology Journal, 2014, v. 27, n. 1, p. 85, doi. 10.15274/NRJ-2014-10009
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- Publication type:
- Article
Neuropathology of central nervous system involvement in TTR amyloidosis.
- Published in:
- Acta Neuropathologica, 2023, v. 145, n. 1, p. 113, doi. 10.1007/s00401-022-02501-9
- By:
- Publication type:
- Article
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin‐α2 variome and its related phenotypes.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1314, doi. 10.1002/humu.23599
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- Publication type:
- Article
Clinico-pathological correlations of the most common neurodegenerative dementias.
- Published in:
- Frontiers in Neurology, 2012, v. 3, p. 1, doi. 10.3389/fneur.2012.00068
- By:
- Publication type:
- Article
Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.
- Published in:
- Genes, 2017, v. 8, n. 10, p. 253, doi. 10.3390/genes8100253
- By:
- Publication type:
- Article
MCARDLE'S DISEASE: DIAGNOSTIC APPROACH AFTER CLINICAL SYMPTOMS OF VIGOROUS EXERCISE INTOLERANCE IN A SNOWBOARDER IN ALPES.
- Published in:
- Acta Reumatológica Portuguesa, 2019, p. 139
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- Publication type:
- Article