Making sense of missense variants in TTN-related congenital myopathies.

abstract：:The cerebrovascular lesions of severe chronic hypertension were studied by light microscopy in perfusion-fixed, subserially sectioned brains from stroke-prone spontaneously hypertensive rats (SHRSP). The leakage and spread of plasma proteins were visualized by immunohistochemical detection of extravasated fibrinogen a...

journal_title：Acta neuropathologica

authors： Fredriksson K,Auer RN,Kalimo H,Nordborg C,Olsson Y,Johansson BB

更新日期：1985-01-01 00:00:00

abstract：:Flurothyl-induced status epilepticus was studied by light and electron microscopy (LM, EM) to determine the time course and structural features of neuronal necrosis in the vulnerable brain regions in epilepsy. The cerebral cortex, hippocampus and thalamus were examined after closely spaced recovery periods of up to 1 ...

journal_title：Acta neuropathologica

authors： Ingvar M,Morgan PF,Auer RN

更新日期：1988-01-01 00:00:00

abstract：:In comparison to the levels in age and gender-matched controls, reduced levels of pathological amyloid-β protein in cerebrospinal fluid routinely precede the onset of Alzheimer's disease-related symptoms by several years, whereas elevated soluble abnormal tau fractions (phosphorylated tau, total tau protein) in cerebr...

journal_title：Acta neuropathologica

authors： Braak H,Zetterberg H,Del Tredici K,Blennow K

更新日期：2013-11-01 00:00:00

abstract：:Histochemical and electron microscopic studies were performed in an attempt to clarify the muscle pathology in an 18-year-old man with Fabry disease, showing proximal limb muscle atrophy, and his 52-year-old mother, who is a Fabry carrier with hypertrophic cardiomyopathy. Despite the relatively mild myopathic changes ...

journal_title：Acta neuropathologica

authors： Uchino M,Uyama E,Kawano H,Hokamaki J,Kugiyama K,Murakami Y,Yasue H,Ando M

更新日期：1995-01-01 00:00:00

abstract：:Intracranial solitary fibrous tumors (SFTs) are typically dural-based, CD34-positive neoplasms of uncertain histogenesis. We examined ten cases of meninges obtained at autopsy from patients with no history of neurological illness, head trauma, or neurosurgical intervention, and ten cases of typical meningiomas with at...

journal_title：Acta neuropathologica

authors： Cummings TJ,Burchette JL,McLendon RE

更新日期：2001-10-01 00:00:00

abstract：:Four melanin pigment-containing intracranial tumors were found in three Long-Evans rats in the course of experimental oncogenesis by transplacental ethylnitrosourea (ENU). One of them was a leptomeningeal melanoma. Aside from the presence of scattered melanin-pigmented cells, the other three had the typical histologic...

journal_title：Acta neuropathologica

authors： Spence AM,Rubinstein LJ,Conley FK,Herman MM

更新日期：1976-05-18 00:00:00

abstract：:The quadriceps femoris muscles of experimental allergic myositis, in strain 13 guinea pigs immunised with rabbit myosin B fraction, were subjected to histochemical, immunohistochemical and electron microscopic studies. They demonstrated a variety of degenerative changes of muscle fibres, infiltration of lymphocytes an...

journal_title：Acta neuropathologica

authors： Matsubara S,Takamori M

更新日期：1987-01-01 00:00:00

abstract：:A case of secretory meningioma with numerous meningothelial rosettes is reported. A 66-year-old man with moyamoya disease gradually developed skull deformity, and underwent surgery for the skull tumor overlying the hemisphere. Histological examination disclosed numerous meningothelial rosettes quite similar to those i...

journal_title：Acta neuropathologica

authors： Tada T,Ishii K,Oshima S,Hara H,Kobayashi S

更新日期：1992-01-01 00:00:00

abstract：:X-linked adrenoleukodystrophy (X-ALD) is a rare neurometabolic disease characterized by the accumulation of very long chain fatty acids (VLCFAs) due to a loss of function of the peroxisomal transporter ABCD1. Here, using in vivo and in vitro models, we demonstrate that autophagic flux was impaired due to elevated mamm...

journal_title：Acta neuropathologica

authors： Launay N,Aguado C,Fourcade S,Ruiz M,Grau L,Riera J,Guilera C,Giròs M,Ferrer I,Knecht E,Pujol A

更新日期：2015-03-01 00:00:00

abstract：:Bundles of paired helical filaments (PHF) accumulate in the pyramidal neurons that degenerate during Alzheimer's disease. This neurofibrillary degeneration is highly correlated with clinical signs of dementia. During the degenerating process, Tau proteins, which are the major antigenic components of PHF, are abnormall...

journal_title：Acta neuropathologica

authors： Delacourte A,Flament S,Dibe EM,Hublau P,Sablonnière B,Hémon B,Shérrer V,Défossez A

更新日期：1990-01-01 00:00:00

abstract：:Activation of the MAPK signaling pathway has been shown to be a unifying molecular feature in pilocytic astrocytoma (PA). Genetically, tandem duplications at chromosome 7q34 resulting in KIAA1549-BRAF fusion genes constitute the most common mechanism identified to date. To elucidate alternative mechanisms of aberrant ...

journal_title：Acta neuropathologica

authors： Cin H,Meyer C,Herr R,Janzarik WG,Lambert S,Jones DT,Jacob K,Benner A,Witt H,Remke M,Bender S,Falkenstein F,Van Anh TN,Olbrich H,von Deimling A,Pekrun A,Kulozik AE,Gnekow A,Scheurlen W,Witt O,Omran H,Jabado N,C

更新日期：2011-06-01 00:00:00

abstract：:To investigate the relationship between cerebral amyloid angiopathy and subcortical (lobar) hemorrhage, we examined the severity of amyloid deposition in the leptomeningeal, cortical and subcortical arteries in 28 autopsied elderly patients with cerebral amyloid angiopathy with subcortical hemorrhage, deep cerebral he...

journal_title：Acta neuropathologica

authors： Iwamoto N,Ishihara T,Ito H,Uchino F

更新日期：1993-01-01 00:00:00

abstract：:Relatively little work has been done on the structural effects of organic lead in the central nervous system (CNS), although this form of lead may be a significant fraction of total brain lead. We tested a number of easily measured light-histological parameters of neuronal development in rats for sensitivity to (a) no...

journal_title：Acta neuropathologica

authors： Ferris NJ,Cragg BG

更新日期：1984-01-01 00:00:00

abstract：:Data on the dural invasiveness of pituitary adenomas have been correlated to the expression of matrix metalloproteinases (e.g. MMP-9). Serine proteases have not yet been investigated in human pituitary adenomas. In this study, paraffin-embedded material from 84 human pituitary adenomas (acromegaly n=18, Cushing's dise...

journal_title：Acta neuropathologica

authors： Knappe UJ,Hagel C,Lisboa BW,Wilczak W,Lüdecke DK,Saeger W

更新日期：2003-11-01 00:00:00

abstract：:Cyclooxygenases (COX, prostaglandin endoperoxide synthases, PGG/H synthases) are potent mediators of inflammation. While COX-1 is constitutively expressed in a wide range of tissues, COX-2 is cytokine inducible. Although COX-1 expression is observed in normal tissue, enhanced COX-2 expression has been attributed a key...

journal_title：Acta neuropathologica

authors： Deininger MH,Weller M,Streffer J,Mittelbronn M,Meyermann R

更新日期：1999-09-01 00:00:00

abstract：:Accumulation of the tau protein in fibrillar intracellular aggregates is a defining feature of multiple neurodegenerative diseases collectively referred to as tauopathies. Despite intensive study of tau, there is limited information on the formation and clearance dynamics of tau inclusions. Using rAAV vectors to media...

journal_title：Acta neuropathologica

authors： Croft CL,Goodwin MS,Ryu DH,Lessard CB,Tejeda G,Marrero M,Vause AR,Paterno G,Cruz PE,Lewis J,Giasson BI,Golde TE

更新日期：2021-01-26 00:00:00

abstract：:Frontotemporal lobar degeneration is the term used to describe the non-Alzheimer clinical syndromes of frontotemporal dementia, semantic dementia and progressive non-fluent aphasia, regardless of the underlying neuropathological features. Considerable progress has been made in recent years in our understanding of the ...

journal_title：Acta neuropathologica

authors： Pickering-Brown SM

更新日期：2007-07-01 00:00:00

abstract：:Neurofibromas represent one of the hallmarks of neurofibromatosis 1 (NF1) patients. Tumor progression of neurofibromas to malignant peripheral nerve sheath tumors (MPNST) is a frequent and life threatening complication. To learn more about processes involved in malignant transformation, we evaluated differential gene ...

journal_title：Acta neuropathologica

authors： Holtkamp N,Mautner VF,Friedrich RE,Harder A,Hartmann C,Theallier-Janko A,Hoffmann KT,von Deimling A

更新日期：2004-02-01 00:00:00

abstract：:To identify antigenic differences between gliomas and normal brain, we have immunohistochemically studied the expression of lymphocyte adhesion molecules (ICAM-1, ICAM-2, ICAM-3, VCAM-1, E-selectin and CD58), epidermal growth factor receptor (EGFR) and extracellular matrix proteins (collagen IV, fibronectin, laminin, ...

journal_title：Acta neuropathologica

authors： Mäenpää A,Kovanen PE,Paetau A,Jäáskeläinen J,Timonen T

更新日期：1997-09-01 00:00:00

abstract：:Laquinimod (LAQ) is a new oral immunomodulatory compound that reduces relapse rate, brain atrophy and disability progression in multiple sclerosis (MS). LAQ has well-documented effects on inflammation in the periphery, but little is known about its direct activity within the central nervous system (CNS). To elucidate ...

journal_title：Acta neuropathologica

authors： Brück W,Pförtner R,Pham T,Zhang J,Hayardeny L,Piryatinsky V,Hanisch UK,Regen T,van Rossum D,Brakelmann L,Hagemeier K,Kuhlmann T,Stadelmann C,John GR,Kramann N,Wegner C

更新日期：2012-09-01 00:00:00

abstract：:We performed a comparative study to assess cerebral amyloid angiopathy and ApoE genotype in cases of Alzheimer's disease (AD). Ten ApoE 3,3 and ten ApoE 4,4 AD brains, as well as ten normal control brains, were selected after matching for age, sex, and duration of disease. Sections of middle frontal and inferior parie...

journal_title：Acta neuropathologica

authors： Trembath D,Ervin JF,Broom L,Szymanski M,Welsh-Bohmer K,Pieper C,Hulette CM

更新日期：2007-01-01 00:00:00

abstract：:We studied three siblings and one unrelated patient with cerebrotendinous xanthomatosis (CTX). Of two unrelated patients, we examined biopsies of sural nerve, soleus muscle, and achilles tendon. We also performed neurophysiologic investigations. Another patient died, and a postmortem examination of both brain and spin...

journal_title：Acta neuropathologica

authors： Pop PH,Joosten E,van Spreeken A,Gabreëls-Festen A,Jaspar H,ter Laak H,Vos A

更新日期：1984-01-01 00:00:00

abstract：:Adult white rats were injected daily for 1 month with aluminum chloride and killed. Aluminum was identified, quantitated, and localized in the brains of these rats. The only detectable anomalies were crystals of aluminum and phosphorus in lysosomes and lipofuscin granules in the cytoplasm of neurons. ...

journal_title：Acta neuropathologica

authors： Galle P,Berry JP,Duckett S

更新日期：1980-01-01 00:00:00

abstract：:Microglia are long-living resident immune cells of the brain, which secure a stable chemical and physical microenvironment necessary for the proper functioning of the central nervous system (CNS). These highly dynamic cells continuously scan their environment for pathogens and possess the ability to react to damage-in...

journal_title：Acta neuropathologica

authors： Dudvarski Stankovic N,Teodorczyk M,Ploen R,Zipp F,Schmidt MHH

更新日期：2016-03-01 00:00:00

abstract：:A macrosomic male infant with multiple malformations survived for 4 days. His external dysplasias comprised macrocephalus, cheilopalatoschisis, auricular anomalies, and unilateral hexadactyl; his internal dysplasias included cysts of kidneys and pancreas, and a patent foramen ovale. The child had frequent generalized ...

journal_title：Acta neuropathologica

authors： Hori A,Orthner H,Kohlschütter A,Schott KM,Hirabayashi K,Shimokawa K

更新日期：1980-01-01 00:00:00

abstract：:Two cases out of a sample of 41 fetuses and infants with prosencephalic malformation, observed at the Institute of Pathology and Department of Neuropathology of the University of Heidelberg, are described here in detail. These cases presented grossly with microcephaly and missing forebrain, appearing to be cases of ap...

journal_title：Acta neuropathologica

authors： Sergi C,Schmitt HP

更新日期：2000-03-01 00:00:00

abstract：:Parkinson's disease (PD) is the most common neurodegenerative movement disorder and is characterized by the progressive loss of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc) and the gradual appearance of α-synuclein (α-syn)-containing neuronal protein aggregates. Although the exact mechanism of...

journal_title：Acta neuropathologica

authors： Tan Y,Sgobio C,Arzberger T,Machleid F,Tang Q,Findeis E,Tost J,Chakroun T,Gao P,Höllerhage M,Bötzel K,Herms J,Höglinger G,Koeglsperger T

更新日期：2020-02-01 00:00:00

abstract：:Most cases of frontotemporal lobar degeneration (FTLD) are characterized by abnormal intracellular accumulation of either tau or TDP-43 protein. However, in ~10% of cases, composed of a heterogenous collection of uncommon disorders, the molecular basis remains to be uncertain. We recently discovered that the pathologi...

journal_title：Acta neuropathologica

authors： Mackenzie IR,Munoz DG,Kusaka H,Yokota O,Ishihara K,Roeber S,Kretzschmar HA,Cairns NJ,Neumann M

更新日期：2011-02-01 00:00:00

abstract：:The selective toxicity of silica dust for macrophages has been used to assess the role of these cells in experimental allergic neuritis (EAN). Inbred Lewis rats were inoculated with bovine dorsal roots in Freund's complete adjuvant (day 0). In two experiments, animals received 200 mg of silica dust in 1 cm3 of saline ...

journal_title：Acta neuropathologica

authors： Craggs RI,King RH,Thomas PK

更新日期：1984-01-01 00:00:00

abstract：:Detailed neuropathologic and immunohistologic analysis of a case of serologically and polymerase chain reaction-confirmed human immunodeficiency virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is reported in a 73-year-old North American black woman. In addition to the usual neuropath...

journal_title：Acta neuropathologica

authors： Wu E,Dickson DW,Jacobson S,Raine CS

更新日期：1993-01-01 00:00:00