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Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2

期刊: CLINICAL NEUROPATHOLOGY, 2021; 40 (3)

Kinesins are microtubule-associated motor proteins involved in in regulating microtubule dynamics in neuronal and non-neuronal cells. However, the axo......

Muscular pathological features in patients with Lambert-Eaton myasthenic syndrome associated with small cell lung carcinoma

期刊: CLINICAL NEUROPATHOLOGY, 2021; 40 (2)

Aims: Lambert-Eaton myasthenic syndrome (LEMS) is a kind of autoimmune disease of the neuromuscular junction that is often misdiagnosed as a periphera......

Dissociation of axo-glial junction in anti-neurofascin 155 chronic inflammatory demyelinating polyneuropathy

期刊: CLINICAL NEUROPATHOLOGY, 2021; 40 (2)

Aims: A subset of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is characterized by the presence of anti-neurofascin 155 (anti-NF15......

Poorly differentiated SMARCB1/INI1-negative chordomas

期刊: CLINICAL NEUROPATHOLOGY, 2021; 40 (1)

Aims: To analyze the clinicopathological characteristics of poorly differentiated chordomas (PDCs) with SMARCB1/INT1 loss in children. Materials: Four......

Diagnostic indicators for adult-onset neuronal intranuclear inclusion disease

期刊: CLINICAL NEUROPATHOLOGY, 2020; 39 (1)

Adult-onset neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder. Abnormally high signals of diffusion-weighted image (......

Recurrent solitary fibrous tumor of the spinal cord: A case report and literature review

期刊: CLINICAL NEUROPATHOLOGY, 2020; 39 (2)

Solitary fibrous tumor (SFT) is a benign mesenchymal neoplasm occurring anywhere in the body, such as the visceral pleura, while it is extremely rare ......

Predicting short-term recurrence in pituitary adenomas: Phosphohistone-H3 (Ser 10) proves an effective biomarker

期刊: CLINICAL NEUROPATHOLOGY, 2020; 39 (2)

Aims: This research sought to assess the effectiveness of the phosphohistone-H3 (PHH3) mitotic index (MI) as a biomarker to predict early recurrence a......

Peripheral nerve pathology in VAPB-associated amyotrophic lateral sclerosis with dysautonomia in a Chinese family

期刊: CLINICAL NEUROPATHOLOGY, 2020; 39 (6)

Mutations of the vesicle-associated membrane protein-associated protein B (VAPB) gene have been identified in familial amyotrophic lateral sclerosis (......

MYB-QKI rearrangement in angiocentric glioma

期刊: CLINICAL NEUROPATHOLOGY, 2020; 39 (6)

Aims: To evaluate the occurrence and diagnostic value of MYB-QKI rearrangement status in angiocentric glioma (AG) in Chinese patients. Materials and m......

Primary intradiploic epidermoid cyst: A case report with literature review

期刊: CLINICAL NEUROPATHOLOGY, 2019; 38 (1)

Primary intradiploic epidermoid cyst of the central nervous system (CNS) is a rare disease. More than 200 cases have been reported so far. The lesion ......

JIF:0.95

Adult-onset SMALED2 due to a novel BICD2 mutation presenting with asymmetrical lower limb involvement

期刊: CLINICAL NEUROPATHOLOGY, 2019; 38 (3)

Heterozygous variants in the bicaudal D homolog 2 gene (BICD2) are associated with autosomal dominant spinal muscular atrophy with lower extremity pre......

JIF:0.95

Missense mutations in LAMA2 causing a new phenotype of mild cognitive impairment proximal myopathy, seizure, and severe leukoencephalopathy: A case report and protein analysis

期刊: CLINICAL NEUROPATHOLOGY, 2019; 38 (3)

Congenital muscular dystrophy with laminin-alpha 2 deficiency, also known as MDC1A, displays an extensive pheno-typic and genetic heterogeneity. The c......

JIF:0.95

Clinical findings and autophagic pathology in neutral lipid storage disease with myopathy

期刊: CLINICAL NEUROPATHOLOGY, 2019; 38 (4)

Neutral lipid storage disease with myopathy (NLSDM) is a triglyceride metabolic disorder caused by defects of adipose triglyceride lipases (ATGL). The......

JIF:0.95

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