Found: 57
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Charcot- Marie- Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation.
- Published in:
- European Journal of Neurology, 2012, v. 19, n. 10, p. e114, doi. 10.1111/j.1468-1331.2012.03812.x
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- Publication type:
- Article
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.
- Published in:
- 2017
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- Publication type:
- journal article
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2271, doi. 10.3390/ijms23042271
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- Publication type:
- Article
Expression of the B7-related molecule ICOSL by human glioma cells in vitro and in vivo.
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- Glia, 2003, v. 44, n. 3, p. 296, doi. 10.1002/glia.10291
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- Publication type:
- Article
Redo-endorectal pull through following various pull through procedures in Hirschsprung's disease.
- Published in:
- Langenbeck's Archives of Surgery, 2008, v. 393, n. 4, p. 493, doi. 10.1007/s00423-007-0259-1
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- Publication type:
- Article
Pituitary Carcinoma with Malignant Growth from First Presentation and Fulminant Clinical Course—Case Report and Review of the Literature.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 9, p. 2665, doi. 10.1210/jc.2011-1166
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- Publication type:
- Article
Transplantation of a latissimus dorsi flap after nearly 6 hr of extracorporal perfusion: A case report.
- Published in:
- Microsurgery, 2021, v. 41, n. 1, p. 75, doi. 10.1002/micr.30649
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- Publication type:
- Article
Invasive fibroblasts: fundamental difference between sporadic inclusion body myositis and polymyositis.
- Published in:
- 2014
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- Publication type:
- Journal Article
Invasive fibroblasts: Fundamental difference between sporadic inclusion body myositis and polymyositis.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 2, p. 175, doi. 10.1002/mus.23898
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- Publication type:
- Article
Myogenesis in human denervated muscle biopsies.
- Published in:
- Muscle & Nerve, 2008, v. 37, n. 1, p. 79, doi. 10.1002/mus.20902
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- Publication type:
- Article
Comparison of the muscle fiber diameter and satellite cell frequency in human muscle biopsies.
- Published in:
- 1999
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- Publication type:
- journal article
Case report of a patient with progressive multifocal leukoencephalopathy under treatment with dimethyl fumarate.
- Published in:
- BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0363-8
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- Publication type:
- Article
Case report of a patient with progressive multifocal leukoencephalopathy under treatment with dimethyl fumarate.
- Published in:
- 2015
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- Publication type:
- journal article
COX2 expression is associated with proliferation and tumor extension in vestibular schwannoma but is not influenced by acetylsalicylic acid intake.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0760-0
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- Publication type:
- Article
Speeding Up and Improving Image Quality in Glioblastoma MRI Protocol by Deep Learning Image Reconstruction.
- Published in:
- Cancers, 2024, v. 16, n. 10, p. 1827, doi. 10.3390/cancers16101827
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- Publication type:
- Article
CNS Invasion in Meningioma—How the Intraoperative Assessment Can Improve the Prognostic Evaluation of Tumor Recurrence.
- Published in:
- Cancers, 2020, v. 12, n. 12, p. 3620, doi. 10.3390/cancers12123620
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- Publication type:
- Article
CD19-Targeting CAR T Cells for Myositis and Interstitial Lung Disease Associated With Antisynthetase Syndrome.
- Published in:
- JAMA: Journal of the American Medical Association, 2023, v. 329, n. 24, p. 2154, doi. 10.1001/jama.2023.8753
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- Publication type:
- Article
Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma.
- Published in:
- 1990
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- Publication type:
- journal article
Neurodegeneration and Motor Dysfunction in a Conditional Model of Parkinson's Disease.
- Published in:
- Journal of Neuroscience, 2008, v. 28, n. 10, p. 2471, doi. 10.1523/JNEUROSCI.3040-07.2008
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- Publication type:
- Article
Gliosarcoma with chondroid and osseous differentiation.
- Published in:
- Neuropathology, 2007, v. 27, n. 1, p. 90, doi. 10.1111/j.1440-1789.2006.00747.x
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- Publication type:
- Article
Enforced expression of protein kinase C in skeletal muscle causes physical inactivity, fatty liver and insulin resistance in the brain.
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- Journal of Cellular & Molecular Medicine, 2010, v. 14, n. 4, p. 903, doi. 10.1111/j.1582-4934.2008.00629.x
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- Publication type:
- Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
- Published in:
- 2013
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- Publication type:
- Journal Article
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 12, p. 3634, doi. 10.1093/brain/awt283
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- Publication type:
- Article
Analysis of TP53 and PTEN in gliomatosis cerebri.
- Published in:
- Acta Neuropathologica, 2003, v. 105, n. 6, p. 529, doi. 10.1007/s00401-003-0674-5
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- Publication type:
- Article
Ultrastructural findings at the satellite cell-myofiber border in normal and diseased human muscle biopsy specimens.
- Published in:
- Acta Neuropathologica, 2001, v. 101, n. 5, p. 435, doi. 10.1007/s004010000302
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- Publication type:
- Article
Spatial and temporal development of the gliovascular tissue in type II lissencephaly.
- Published in:
- Acta Neuropathologica, 1997, v. 93, n. 2, p. 173, doi. 10.1007/s004010050599
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- Publication type:
- Article
Fatal congenital myopathy with actin filament deposits.
- Published in:
- Acta Neuropathologica, 1996, v. 92, n. 1, p. 104, doi. 10.1007/s004010050496
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- Publication type:
- Article
Gain and Loss of Extracellular Molecules in Sporadic Inclusion Body Myositis and Polymyositis-A Proteomics-Based Study.
- Published in:
- Brain Pathology, 2012, v. 22, n. 1, p. 32, doi. 10.1111/j.1750-3639.2011.00510.x
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- Publication type:
- Article
SKULL BASE TUMOR IN A PATIENT WITH PHACOMATOSIS PIGMENTOVASCULARIS.
- Published in:
- Brain Pathology, 2011, v. 21, n. 6, p. 705, doi. 10.1111/j.1750-3639.2011.00528.x
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- Publication type:
- Article
Myonuclear Degeneration in LMNA Null Mice.
- Published in:
- Brain Pathology, 2008, v. 18, n. 3, p. 338, doi. 10.1111/j.1750-3639.2008.00123.x
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- Publication type:
- Article
A 57-YEAR-OLD FEMALE WITH A BENIGN TUMOR IN THE ETHMOID SINUS.
- Published in:
- 2006
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- Publication type:
- Letter
Myofiber Degeneration in Autosomal Dominant Emery–Dreifuss Muscular Dystrophy (AD-EDMD) (LGMD1B).
- Published in:
- Brain Pathology, 2006, v. 16, n. 4, p. 266, doi. 10.1111/j.1750-3639.2006.00028.x
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- Publication type:
- Article
The Expression Profile of Myogenic Transcription Factors in Satellite Cells from Denervated Rat Muscle.
- Published in:
- Brain Pathology, 2002, v. 12, n. 2, p. 170, doi. 10.1111/j.1750-3639.2002.tb00431.x
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- Publication type:
- Article
Introduction: Recent Advances in Hereditary Neuromuscular Diseases of Childhood.
- Published in:
- Brain Pathology, 2001, v. 11, n. 2, p. 190, doi. 10.1111/j.1750-3639.2001.tb00391.x
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- Publication type:
- Article
Congenital Myopathies.
- Published in:
- Brain Pathology, 2001, v. 11, n. 2, p. 206, doi. 10.1111/j.1750-3639.2001.tb00393.x
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- Publication type:
- Article
Diagnostic Protein Expression in Human Muscle Biopsies.
- Published in:
- Brain Pathology, 2000, v. 10, n. 2, p. 193, doi. 10.1111/j.1750-3639.2000.tb00254.x
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- Publication type:
- Article
Errata.
- Published in:
- Annals of Neurology, 2010, v. 67, n. 6, p. 841, doi. 10.1002/ana.22078
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- Publication type:
- Article
First appraisal of brain pathology owing to A30P mutant alpha-synuclein.
- Published in:
- Annals of Neurology, 2010, v. 67, n. 5, p. 684, doi. 10.1002/ana.21966
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- Publication type:
- Article
Specification of 14-3-3 proteins in Lewy bodies.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 1, p. 135
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- Publication type:
- Article
Gliomatosis cerebri: molecular pathology and clinical course.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Myofiber degeneration in autosomal-dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B).
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A398, doi. 10.1096/fasebj.21.5.a398-c
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- Publication type:
- Article
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 6, p. 849, doi. 10.1007/s10545-016-9961-x
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- Publication type:
- Article
First case of adult onset neuronal intranuclear inclusion disease with both typical radiological signs and NOTCH2NLC repeat expansions in a Caucasian individual.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 9, p. 2854, doi. 10.1111/ene.15905
- By:
- Publication type:
- Article
Subcellular localization of GLUT4 in nonstimulated and insulin-stimulated soleus muscle of rat.
- Published in:
- 1992
- By:
- Publication type:
- journal article
Cerebellopontine Angle Arachnoid Cyst Harbouring Ectopic Neuroglia.
- Published in:
- Pediatric Neurosurgery, 2005, v. 41, n. 4, p. 220, doi. 10.1159/000086566
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- Publication type:
- Article
Surgical management of primary and secondary pilocytic astrocytoma of the cerebellopontine angle (in adults and children) and review of the literature.
- Published in:
- Neurosurgical Review, 2021, v. 44, n. 2, p. 1083, doi. 10.1007/s10143-020-01293-4
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- Publication type:
- Article
Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repair.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 20, p. 3832, doi. 10.1093/hmg/ddp327
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- Publication type:
- Article
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 15, p. 2099, doi. 10.1093/hmg/ddi215
- By:
- Publication type:
- Article
Gene-expression profiling elucidates molecular signaling networks that can be therapeutically targeted in vestibular schwannoma.
- Published in:
- Journal of Neurosurgery, 2014, v. 121, n. 6, p. 1434, doi. 10.3171/2014.6.jns131433
- By:
- Publication type:
- Article
Therapeutic targeting based on gene-expression profiling in vestibular schwannomas.
- Published in:
- Journal of Neurosurgery, 2014, v. 121, n. 6, p. 1433
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- Publication type:
- Article