Neuropathology and Applied Neurobiology最新文献

{"title":"Pediatric Anesthesia in the Community.","authors":"Richard P Dutton, Robert B Bryskin, Marion 'Red' Starks, Aesha S Shukla, Olivia Lounsbury","doi":"10.1016/j.aan.2023.06.002","DOIUrl":"10.1016/j.aan.2023.06.002","url":null,"abstract":"<p><p>Pediatric anesthesia is a diverse subspecialty practiced at thousands of hospitals and ambulatory surgery centers across the country. Most unusual and high-risk cases are performed in dedicated children's hospitals. However, the majority of cases and practitioners are based in the community. We present a review of demographics in pediatric anesthesia in the United States across 7 years of data from US Anesthesia Partners, a national anesthesia practice, which covers the full range of hospitals and outpatient facilities.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"1 1","pages":"127-142"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84954810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery.","authors":"Natalie Grima, Sidong Liu, Dean Southwood, Lyndal Henden, Andrew Smith, Albert Lee, Dominic B Rowe, Susan D'Silva, Ian P Blair, Kelly L Williams","doi":"10.1111/nan.12943","DOIUrl":"10.1111/nan.12943","url":null,"abstract":"<p><strong>Aim: </strong>Amyotrophic lateral sclerosis (ALS) is a heterogeneous neurodegenerative disease with limited therapeutic options. A key factor limiting the development of effective therapeutics is the lack of disease biomarkers. We sought to assess whether biomarkers for diagnosis, prognosis or cohort stratification could be identified by RNA sequencing (RNA-seq) of ALS patient peripheral blood.</p><p><strong>Methods: </strong>Whole blood RNA-seq data were generated for 96 Australian sporadic ALS (sALS) cases and 48 healthy controls (NCBI GEO accession GSE234297). Differences in sALS-control gene expression, transcript usage and predicted leukocyte proportions were assessed, with pathway analysis used to predict the activity state of biological processes. Weighted Gene Co-expression Network Analysis (WGCNA) and machine learning algorithms were applied to search for diagnostic and prognostic gene expression patterns. Unsupervised clustering analysis was employed to determine whether sALS patient subgroups could be detected.</p><p><strong>Results: </strong>Two hundred and forty-five differentially expressed genes were identified in sALS patients relative to controls, with enrichment of immune, metabolic and stress-related pathways. sALS patients also demonstrated switches in transcript usage across a small set of genes. We established a classification model that distinguished sALS patients from controls with an accuracy of 78% (sensitivity: 79%, specificity: 75%) using the expression of 20 genes. Clustering analysis identified four patient subgroups with gene expression signatures and immune cell proportions reflective of distinct peripheral effects.</p><p><strong>Conclusions: </strong>Our findings suggest that peripheral blood RNA-seq can identify diagnostic biomarkers and distinguish molecular subtypes of sALS patients however, its prognostic value requires further investigation.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12943"},"PeriodicalIF":5.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10946588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41207131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quantitative cellular changes in multiple system atrophy brains.","authors":"Alberte M Andersen, Sanne S Kaalund, Lisbeth Marner, Lisette Salvesen, Bente Pakkenberg, Mikkel V Olesen","doi":"10.1111/nan.12941","DOIUrl":"10.1111/nan.12941","url":null,"abstract":"<p><p>Multiple system atrophy (MSA) is a neurodegenerative disorder characterised by a combined symptomatology of parkinsonism, cerebellar ataxia, autonomic failure and corticospinal dysfunction. In brains of MSA patients, the hallmark lesion is the aggregation of misfolded alpha-synuclein in oligodendrocytes. Even though the underlying pathological mechanisms remain poorly understood, the evidence suggests that alpha-synuclein aggregation in oligodendrocytes may contribute to the neurodegeneration seen in MSA. The primary aim of this review is to summarise the published stereological data on the total number of neurons and glial cell subtypes (oligodendrocytes, astrocytes and microglia) and volumes in brains from MSA patients. Thus, we include in this review exclusively the reports of unbiased quantitative data from brain regions including the neocortex, nuclei of the cerebrum, the brainstem and the cerebellum. Furthermore, we compare and discuss the stereological results in the context of imaging findings and MSA symptomatology. In general, the stereological results agree with the common neuropathological findings of neurodegeneration and gliosis in brains from MSA patients and support a major loss of nigrostriatal neurons in MSA patients with predominant parkinsonism (MSA-P), as well as olivopontocerebellar atrophy in MSA patients with predominant cerebellar ataxia (MSA-C). Surprisingly, the reports indicate only a minor loss of oligodendrocytes in sub-cortical regions of the cerebrum (glial cells not studied in the cerebellum) and negligible changes in brain volumes. In the past decades, the use of stereological methods has provided a vast amount of accurate information on cell numbers and volumes in the brains of MSA patients. Combining different techniques such as stereology and diagnostic imaging (e.g. MRI, PET and SPECT) with clinical data allows for a more detailed interdisciplinary understanding of the disease and illuminates the relationship between neuropathological changes and MSA symptomatology.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12941"},"PeriodicalIF":5.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41145752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A high-throughput single-cell RNA expression profiling method identifies human pericyte markers.","authors":"Andras Sziraki, Yu Zhong, Allison M Neltner, Dana M Niedowicz, Colin B Rogers, Donna M Wilcock, Geetika Nehra, Janna H Neltner, Rebecca R Smith, Anika M Hartz, Junyue Cao, Peter T Nelson","doi":"10.1111/nan.12942","DOIUrl":"10.1111/nan.12942","url":null,"abstract":"<p><strong>Aims: </strong>We sought to identify and optimise a universally available histological marker for pericytes in the human brain. Such a marker could be a useful tool for researchers. Further, identifying a gene expressed relatively specifically in human pericytes could provide new insights into the biological functions of this fascinating cell type.</p><p><strong>Methods: </strong>We analysed single-cell RNA expression profiles derived from different human and mouse brain regions using a high-throughput and low-cost single-cell transcriptome sequencing method called EasySci. Through this analysis, we were able to identify specific gene markers for pericytes, some of which had not been previously characterised. We then used commercially (and therefore universally) available antibodies to immunolabel the pericyte-specific gene products in formalin-fixed paraffin-embedded (FFPE) human brains and also performed immunoblots to determine whether appropriately sized proteins were recognised.</p><p><strong>Results: </strong>In the EasySci data sets, highly pericyte-enriched expression was notable for SLC6A12 and SLC19A1. Antibodies against these proteins recognised bands of approximately the correct size in immunoblots of human brain extracts. Following optimisation of the immunohistochemical technique, staining for both antibodies was strongly positive in small blood vessels and was far more effective than a PDGFRB antibody at staining pericyte-like cells in FFPE human brain sections. In an exploratory sample of other human organs (kidney, lung, liver, muscle), immunohistochemistry did not show the same pericyte-like pattern of staining.</p><p><strong>Conclusions: </strong>The SLC6A12 antibody was well suited for labelling pericytes in human FFPE brain sections, based on the combined results of single-cell RNA-seq analyses, immunoblots and immunohistochemical studies.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12942"},"PeriodicalIF":4.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10842535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41129860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The importance of patient‐centred drug development for amyotrophic lateral sclerosis","authors":"Matthew C. Kiernan, Glenda M. Halliday, Dominic B. Rowe, Rachel H. Tan","doi":"10.1111/nan.12944","DOIUrl":"https://doi.org/10.1111/nan.12944","url":null,"abstract":"Neuropathology and Applied NeurobiologyVolume 49, Issue 6 e12944 LETTER TO THE EDITOR The importance of patient-centred drug development for amyotrophic lateral sclerosis Matthew C. Kiernan, Matthew C. Kiernan Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia Institute of Clinical Neurosciences, Royal Prince Alfred Hospital, Sydney, New South Wales, AustraliaSearch for more papers by this authorGlenda M. Halliday, Glenda M. Halliday orcid.org/0000-0003-0422-8398 Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia Faculty of Medicine and Health, School of Medical Sciences, University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorDominic B. Rowe, Dominic B. Rowe Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, AustraliaSearch for more papers by this authorRachel H. Tan, Corresponding Author Rachel H. Tan [email protected] orcid.org/0000-0002-0385-4090 Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia Faculty of Medicine and Health, School of Medical Sciences, University of Sydney, Sydney, New South Wales, Australia Correspondence Rachel H. Tan, Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, Sydney, NSW 2050, Australia. Email: [email protected]Search for more papers by this author Matthew C. Kiernan, Matthew C. Kiernan Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia Institute of Clinical Neurosciences, Royal Prince Alfred Hospital, Sydney, New South Wales, AustraliaSearch for more papers by this authorGlenda M. Halliday, Glenda M. Halliday orcid.org/0000-0003-0422-8398 Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia Faculty of Medicine and Health, School of Medical Sciences, University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this authorDominic B. Rowe, Dominic B. Rowe Macquarie University Centre for Motor Neuron Disease Research, Faculty of Medicine, Health and Human Sciences, Macquarie University, Sydney, New South Wales, AustraliaSearch for more papers by this authorRachel H. Tan, Corresponding Author Rachel H. Tan [email protected] orcid.org/0000-0002-0385-4090 Brain and Mind Centre, University of Sydney, Sydney, New South Wales, Australia Faculty of Medicine and Health, School of Medical Sciences, University of Sydney, Sydney, New South Wales, Australia Correspondence Rachel H. Tan, Brain and Mind Centre, University of Sydney, 94 Mallett Street, Camperdown, Sydney, NSW 2050, Australia. Email: [email protected]Search for more papers by this author First published: 07 November 2023 https://doi.org/10.1111/nan.12944Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms ","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"80 12","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135539966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Morphological alterations of the neuronal Golgi apparatus upon seizures.","authors":"Anna Skupien-Jaroszek, Andrzej A Szczepankiewicz, Andrzej Rysz, Andrzej Marchel, Ewa Matyja, Wiesława Grajkowska, Grzegorz M Wilczynski, Joanna Dzwonek","doi":"10.1111/nan.12940","DOIUrl":"10.1111/nan.12940","url":null,"abstract":"<p><strong>Aims: </strong>Epilepsy is one of the most common chronic neurological disorders, affecting around 50 million people worldwide, but its underlying cellular and molecular events are not fully understood. The Golgi is a highly dynamic cellular organelle and can be fragmented into ministacks under both physiological and pathological conditions. This phenomenon has also been observed in several neurodegenerative disorders; however, the structure of the Golgi apparatus (GA) in human patients suffering from epilepsy has not been described so far. The aim of this study was to assess the changes in GA architecture in epilepsy.</p><p><strong>Methods: </strong>Golgi visualisation with immunohistochemical staining in the neocortex of adult patients who underwent epilepsy surgery; 3D reconstruction and quantitative morphometric analysis of GA structure in the rat hippocampi upon kainic acid (KA) induced seizures, as well as in vitro studies with the use of Ca²⁺ chelator BAPTA-AM in primary hippocampal neurons upon activation were performed.</p><p><strong>Results: </strong>We observed GA dispersion in neurons of the human neocortex of patients with epilepsy and hippocampal neurons in rats upon KA-induced seizures. The structural changes of GA were reversible, as GA morphology returned to normal within 24 h of KA treatment. KA-induced Golgi fragmentation observed in primary hippocampal neurons cultured in vitro was largely abolished by the addition of BAPTA-AM.</p><p><strong>Conclusions: </strong>In our study, we have shown for the first time that the neuronal GA is fragmented in the human brain of patients with epilepsy and rat brain upon seizures. We have shown that seizure-induced GA dispersion can be reversible, suggesting that enhanced neuronal activity induces Golgi reorganisation that is involved in aberrant neuronal plasticity processes that underlie epilepsy. Moreover, our results revealed that elevated cytosolic Ca²⁺ is indispensable for these KA-induced morphological alterations of GA in vitro.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12940"},"PeriodicalIF":5.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41101308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hippocampal and neocortical BRAF mutant non-expansive lesions in focal epilepsies.","authors":"Julie Lerond,&nbsp;Bertrand Mathon,&nbsp;Mélina Scopin,&nbsp;Lucia Nichelli,&nbsp;Justine Guégan,&nbsp;Céline Bertholle,&nbsp;Brigitte Izac,&nbsp;Muriel Andrieu,&nbsp;Thomas Gareau,&nbsp;Florian Donneger,&nbsp;Badreddine Mohand Oumoussa,&nbsp;Franck Letourneur,&nbsp;Suzanne Tran,&nbsp;Mathilde Bertrand,&nbsp;Isabelle Le Roux,&nbsp;Mehdi Touat,&nbsp;Sophie Dupont,&nbsp;Jean Christophe Poncer,&nbsp;Vincent Navarro,&nbsp;Franck Bielle","doi":"10.1111/nan.12937","DOIUrl":"10.1111/nan.12937","url":null,"abstract":"<p><strong>Objective: </strong>Mesial Temporal Lobe Epilepsy-associated Hippocampal Sclerosis (MTLE-HS) is a syndrome associated with various aetiologies. We previously identified CD34-positive extravascular stellate cells (CD34+ cells) possibly related to BRAF^V600E oncogenic variant in a subset of MTLE-HS. We aimed to identify the BRAF^V600E oncogenic variants and characterise the CD34+ cells.</p><p><strong>Methods: </strong>We analysed BRAF^V600E oncogenic variant by digital droplet Polymerase Chain Reaction in 53 MTLE-HS samples (25 with CD34+ cells) and nine non-expansive neocortical lesions resected during epilepsy surgery (five with CD34+ cells). Ex vivo multi-electrode array recording, immunolabelling, methylation microarray and single nuclei RNAseq were performed on BRAF^wildtype MTLE-HS and BRAF^V600E mutant non-expansive lesion of hippocampus and/or neocortex.</p><p><strong>Results: </strong>We identified a BRAF^V600E oncogenic variant in five MTLE-HS samples with CD34+ cells (19%) and in five neocortical samples with CD34+ cells (100%). Single nuclei RNAseq of resected samples revealed two unique clusters of abnormal cells (including CD34+ cells) associated with senescence and oligodendrocyte development in both hippocampal and neocortical BRAF^V600E mutant samples. The co-expression of the oncogene-induced senescence marker p16^INK4A and the outer subventricular zone radial glia progenitor marker HOPX in CD34+ cells was confirmed by multiplex immunostaining. Pseudotime analysis showed that abnormal cells share a common lineage from progenitors to myelinating oligodendrocytes. Epilepsy surgery led to seizure freedom in eight of the 10 patients with BRAF mutant lesions.</p><p><strong>Interpretation: </strong>BRAF^V600E underlies a subset of MTLE-HS and epileptogenic non-expansive neocortical focal lesions. Detection of the oncogenic variant may help diagnosis and open perspectives for targeted therapies.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12937"},"PeriodicalIF":5.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41159400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cu^II(atsm) significantly decreases microglial reactivity in patients with sporadic amyotrophic lateral sclerosis.","authors":"Jeffrey R Liddell, James B W Hilton, Peter J Crouch","doi":"10.1111/nan.12938","DOIUrl":"10.1111/nan.12938","url":null,"abstract":"","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":"49 5","pages":"e12938"},"PeriodicalIF":5.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54230327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fibroblast growth factor 9 (FGF9)-mediated neurodegeneration: Implications for progressive multiple sclerosis?","authors":"Katja Thümmler,&nbsp;Claudia Wrzos,&nbsp;Jonas Franz,&nbsp;Daniel McElroy,&nbsp;John J Cole,&nbsp;Lorna Hayden,&nbsp;Diana Arseni,&nbsp;Friedrich Schwarz,&nbsp;Andreas Junker,&nbsp;Julia M Edgar,&nbsp;Sebastian Kügler,&nbsp;Andreas Neef,&nbsp;Fred Wolf,&nbsp;Christine Stadelmann,&nbsp;Christopher Linington","doi":"10.1111/nan.12935","DOIUrl":"10.1111/nan.12935","url":null,"abstract":"<p><strong>Aims: </strong>Fibroblast growth factor (FGF) signalling is dysregulated in multiple sclerosis (MS) and other neurological and psychiatric conditions, but there is little or no consensus as to how individual FGF family members contribute to disease pathogenesis. Lesion development in MS is associated with increased expression of FGF1, FGF2 and FGF9, all of which modulate remyelination in a variety of experimental settings. However, FGF9 is also selectively upregulated in major depressive disorder (MDD), prompting us to speculate it may also have a direct effect on neuronal function and survival.</p><p><strong>Methods: </strong>Transcriptional profiling of myelinating cultures treated with FGF1, FGF2 or FGF9 was performed, and the effects of FGF9 on cortical neurons investigated using a combination of transcriptional, electrophysiological and immunofluorescence microscopic techniques. The in vivo effects of FGF9 were explored by stereotactic injection of adeno-associated viral (AAV) vectors encoding either FGF9 or EGFP into the rat motor cortex.</p><p><strong>Results: </strong>Transcriptional profiling of myelinating cultures after FGF9 treatment revealed a distinct neuronal response with a pronounced downregulation of gene networks associated with axonal transport and synaptic function. In cortical neuronal cultures, FGF9 also rapidly downregulated expression of genes associated with synaptic function. This was associated with a complete block in the development of photo-inducible spiking activity, as demonstrated using multi-electrode recordings of channel rhodopsin-transfected rat cortical neurons in vitro and, ultimately, neuronal cell death. Overexpression of FGF9 in vivo resulted in rapid loss of neurons and subsequent development of chronic grey matter lesions with neuroaxonal reduction and ensuing myelin loss.</p><p><strong>Conclusions: </strong>These observations identify overexpression of FGF9 as a mechanism by which neuroaxonal pathology could develop independently of immune-mediated demyelination in MS. We suggest targeting neuronal FGF9-dependent pathways may provide a novel strategy to slow if not halt neuroaxonal atrophy and loss in MS, MDD and potentially other neurodegenerative diseases.</p>","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12935"},"PeriodicalIF":5.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10233348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain pathology of lissencephaly type 2 with an ISPD pathogenic variant.","authors":"Julia Keith,&nbsp;Patrick Shannon","doi":"10.1111/nan.12939","DOIUrl":"10.1111/nan.12939","url":null,"abstract":"","PeriodicalId":19151,"journal":{"name":"Neuropathology and Applied Neurobiology","volume":" ","pages":"e12939"},"PeriodicalIF":5.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41145048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}