作者: ARBOR 時(shí)間: 2025-3-21 23:27 作者: 防銹 時(shí)間: 2025-3-22 01:01
Acanthocytes and Disorders of Lipoprotein Metabolismntury ago to describe the dysmorphic erythrocytes seen in abetalipoproteinemia (ABL), a complex metabolic disorder that is characterised by fat malabsorption, atypical retinitis pigmentosa and spinocerebellar ataxia. ABL results from mutation in the gene encoding microsomal triglyceride transfer pro作者: eardrum 時(shí)間: 2025-3-22 06:28 作者: 慎重 時(shí)間: 2025-3-22 12:40 作者: CON 時(shí)間: 2025-3-22 16:22
McLeod Syndrome: A Clinical Reviewe encoding the XK protein, a membrane transport protein of yet unknown function. Hematologically, McLeod syndrome is characterized by an absent Kx erythrocyte antigen, weak expression of Kell antigens, acanthocytosis, and compensated hemolysis. Asymptomatic male McLeod carriers have elevated serum c作者: 課程 時(shí)間: 2025-3-22 18:34 作者: 萬花筒 時(shí)間: 2025-3-22 23:41
Acanthocytes in Pantothenate Kinase Associated Neurodegeneration shown to be due to mutations in the gene for pantothenate kinase 2 (.). It was suggested that this group of disorders should now be referred to as pantothenate kinase associated neurodegeneration (PKAN). . is a key regulatory enzyme in the biosynthesis of coenzyme A, which in turn is pivotal in pho作者: 祖先 時(shí)間: 2025-3-23 01:25
Diagnostic Test for Neuroacanthocytosis: Quantitative Measurement of Red Blood Cell Morphologyn and distribution. These morphological changes occur normally because of ultrastructural abnormalities of the erythrocyte membrane due to lipid or membrane skeleton alterations. Since genetic analyses and/or specific laboratory tests are available only for a minority of disorders associated with ac作者: CANON 時(shí)間: 2025-3-23 08:42
Differential Diagnosis of Serum Creatine Kinase Elevationated creatine kinase levels are identified. General practitioners, anesthesiologists, surgeons and neurologists might be confronted with such an unexplained non-cardiac hyperCKemia. Although this problem is not uncommon, it has been the subject of only a few studies. We provide a clinical review of 作者: 清楚說話 時(shí)間: 2025-3-23 11:06 作者: 鐵塔等 時(shí)間: 2025-3-23 13:52 作者: Lacerate 時(shí)間: 2025-3-23 20:52
Epilepsy in Neuroacanthocytosisere. Antiepileptic drug treatment should be started already after the occurrence of the first seizure of a patient with neuroacanthocytosis. Not only general side-effects must be considered when deciding about a specific drug but also effects upon the movement disorder should be taken into account. 作者: 減少 時(shí)間: 2025-3-23 23:02 作者: Maximize 時(shí)間: 2025-3-24 02:46
Neuromuscular Findings in Eight Italian Families with Neuroacanthocytosisthy was the prominent feature in McLeod syndrome, with central nucleation and necrotic fibers as the more constant findings. Occasionally mitochondrial changes, as a secondary phenomenon, were observed. Nerve pathology mostly consisted in myelinic lesions, such as thin myelin sheaths and onion bulb 作者: APRON 時(shí)間: 2025-3-24 09:02
Cardiac Involvement in the Neuroacanthocytosis Syndromesopathy is reported in up to two thirds of cases, and sudden death from cardiac arrest is not infrequent. This review summarizes current understanding of familial hypertrophic and dilated cardiomyopathies and the cardiac findings in the neuroacanthocytosis syndromes. Unraveling the molecular basis of作者: Tortuous 時(shí)間: 2025-3-24 14:17
Erythrocyte Membrane Abnormalities in Neuroacanthocytosis: Evidence for a Neuron-Erythrocyte Axis?h two notable exceptions: the XK protein and the anion exchanger band 3. Changes in structure and/or function of erythrocyte band 3 are consistent findings in patients with neuroacanthocytosis. These changes are probably secondary to other processes, which may include changes in the lipid compositio作者: famine 時(shí)間: 2025-3-24 18:22 作者: 顛簸下上 時(shí)間: 2025-3-24 21:50 作者: 袖章 時(shí)間: 2025-3-25 03:04 作者: 讓空氣進(jìn)入 時(shí)間: 2025-3-25 04:16
McLeod Syndrome: A Clinical Reviewe myopathy, sensory-motor axonal neuropathy, and cardiomyopathy. Central nervous system manifestations resemble Huntington’s disease, with a choreatic movement disorder, subcortical cognitive deficits, psychiatric abnormalities, and generalized seizures.作者: 假設(shè) 時(shí)間: 2025-3-25 10:02 作者: 闖入 時(shí)間: 2025-3-25 12:23 作者: 雇傭兵 時(shí)間: 2025-3-25 18:59
Book 2005as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington‘s disease. Recent breakthroughs have now identified the molecular basis of several of these. This volume grew out of the first international scientific meeting ever devoted to neuroa作者: harpsichord 時(shí)間: 2025-3-25 20:03
Levine-Critchley Syndrome of Neuroacanthocytosis: A Clinical Reviewd plasma creatine kinase levels are all common. However, recent advances in molecular biology have shown the syndrome to be genetically heterogeneous, with mutations in at least two separate genes, both the . and McLeod genes being associated with very similar phenotypes.作者: Antimicrobial 時(shí)間: 2025-3-26 00:40
Autosomal-Dominant Chorea-Acanthocytosis: Report of a Family and Neuropathologyaudate-putamen and intranuclear inclusion bodies throughout the cerebral cortex. These inclusion bodies were immunoreactive for ubiquitin, expanded polyglutamine repeats, and torsinA. This family extends the genetic spectrum of chorea-acanthocytosis to include autosomal-dominant inheritance, possibly due to expanded trinucleotide repeats.作者: galley 時(shí)間: 2025-3-26 05:58 作者: quiet-sleep 時(shí)間: 2025-3-26 08:29
Cognitive and Neuropsychiatric Findings in McLeod Syndrome and in Chorea-Acanthocytosisgenerations, most notably Huntington’s disease. Some distinction may be made on the basis of age of neuropsychiatric manifestations (MLS: fourth to fifth decade — ChAc: second to third decade) and the more pronounced features of ChAc. Correlation with the involvement of specific fronto-subcortical loops may be possible in the future.作者: HATCH 時(shí)間: 2025-3-26 14:53 作者: SIT 時(shí)間: 2025-3-26 19:50
The Spectrum of Mutations and Possible Function of the CHAC Geneein-protein interactions. Chorein is homologous to Vps13p, implicated in protein trafficking in yeast. However, until functional studies are carried out, the possible function of chorein, and how its absence leads to the erythrocyte abnormalities and neurodegeneration that are characteristic of chorea-acanthocytosis, is open to speculation.作者: 震驚 時(shí)間: 2025-3-27 00:45
Acanthocytes and Disorders of Lipoprotein Metabolismon in the gene encoding apo B itself, and is clinically very similar to ABL. These conditions are both rare, with fewer than 1 affected subject in 100 000 in most populations. In addition, some neurological disorders with acanthocytosis are associated with depressed plasma lipoproteins.作者: opprobrious 時(shí)間: 2025-3-27 03:51 作者: Hypomania 時(shí)間: 2025-3-27 06:36 作者: yohimbine 時(shí)間: 2025-3-27 12:01 作者: Strength 時(shí)間: 2025-3-27 14:16 作者: 諷刺滑稽戲劇 時(shí)間: 2025-3-27 18:39
Cardiac Involvement in the Neuroacanthocytosis Syndromesof familial hypertrophic and dilated cardiomyopathies and the cardiac findings in the neuroacanthocytosis syndromes. Unraveling the molecular basis of neuroacanthocytosis may provide us with a novel cardiomyopathic mechanism.作者: Exterior 時(shí)間: 2025-3-28 01:34 作者: 頌揚(yáng)國家 時(shí)間: 2025-3-28 05:01
tosis syndromes.Neuroacanthocytosis Syndromes. is the first comprehensive review of a field that has not yet received the attention it deserves. Affecting the brain as well as the circulating red cells, these multi-system disorders in the past had often been mistaken for Huntington‘s disease. Recent作者: 一美元 時(shí)間: 2025-3-28 08:06
978-90-481-6743-2Springer Science+Business Media B.V. 2005作者: 指耕作 時(shí)間: 2025-3-28 11:33
http://image.papertrans.cn/n/image/663842.jpg作者: predict 時(shí)間: 2025-3-28 18:11 作者: 豪華 時(shí)間: 2025-3-28 20:02
Adrian DanekProvides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes作者: COKE 時(shí)間: 2025-3-29 01:47
Neuroacanthocytosis Syndromes: What Links Red Blood Cells and Neurons?ation can be seen as another neuroacanthocytosis subtype. How is a disorder that mainly affects nerve cells related to the bizarre shape of red blood cells? This question is all the more pressing now that such a variety of origins has been discovered for the one common outcome of neuroacanthocytosis作者: TATE 時(shí)間: 2025-3-29 06:44
The Differential Diagnosis of Neuroacanthocytosis: An Overviewogy, numerous clinical and laboratory indices, which are reviewed here, may help the clinician to make the differential diagnosis, particularly in distinction from Huntington’s disease or other movement disorders.作者: BRAND 時(shí)間: 2025-3-29 09:45
Book 2005on of nerve cells in the brain, the basal ganglia, in particular. It provides a wealth of data that will help to solve an intriguing puzzle and ease the suffering of those affected by one of the neuroacanthocytosis syndromes..作者: 安慰 時(shí)間: 2025-3-29 14:22 作者: 臨時(shí)抱佛腳 時(shí)間: 2025-3-29 18:48 作者: Morose 時(shí)間: 2025-3-29 23:01 作者: Generic-Drug 時(shí)間: 2025-3-30 03:45
Thomas Klopstock,Matthias Elstner,Alessandro Malandrini作者: 去掉 時(shí)間: 2025-3-30 05:49 作者: DEMUR 時(shí)間: 2025-3-30 09:51
Adrian Danek,Laura Sheesley,Michael Tierney,Ingo Uttner,Jordan Grafman作者: 積云 時(shí)間: 2025-3-30 13:10
Maria Teresa Dotti,Alessandro Malandrini,Antonio Federico作者: atrophy 時(shí)間: 2025-3-30 18:13
G. J. C. G. M. Bosman,M. W. I. M. Horstink,W. J. De Grip作者: 粗糙 時(shí)間: 2025-3-30 23:47
Carol Dobson-Stone,Luca Rampoldi,Anthony P. Monaco作者: flamboyant 時(shí)間: 2025-3-31 01:21
9樓作者: 先驅(qū) 時(shí)間: 2025-3-31 05:12
9樓作者: Heretical 時(shí)間: 2025-3-31 11:56
9樓作者: esculent 時(shí)間: 2025-3-31 15:34
9樓作者: ascend 時(shí)間: 2025-3-31 19:43
10樓作者: 柳樹；枯黃 時(shí)間: 2025-3-31 21:55
10樓作者: 放大 時(shí)間: 2025-4-1 04:19
10樓作者: PLE 時(shí)間: 2025-4-1 06:41
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