Motor neuron involvement threatens survival in spinocerebellar ataxia type 1.

IF 4 2区 医学 Q1 CLINICAL NEUROLOGY Neuropathology and Applied Neurobiology Pub Date : 2023-04-01 DOI:10.1111/nan.12897
Giulia Coarelli, Maya Tchikviladzé, Pauline Dodet, Isabelle Arnulf, Perrine Charles, Frederic Tankeré, Thomas Similowski, Danielle Seilhean, Alexis Brice, Charles Duyckaerts, Alexandra Durr
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Abstract

Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France Department of Genetics, Pitié-Salpêtrière Charles-Foix University Hospital, Assistance Publique – Hôpitaux de Paris (AP-HP), Paris, 75013, France Sleep Disorders Unit, Pitié-Salpêtrière University Hospital, AP-HP, Paris, France; ICM, Sorbonne Université, Inserm U 1127, CNRS UMR, Paris, 7225, France Department of Otolaryngology-Head and Neck Surgery, Pitié-Salpêtrière Charles-Foix University Hospital, Assistance Publique – Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, 75013, France Département R3S (Respiration, Réanimation, Réhabilitation respiratoire, Sommeil), Sorbonne Université, INSERM, UMRS1158 Neurophysiologie Respiratoire Expérimentale et Clinique; AP-HP, Groupe Hospitalier Universitaire APHP-Sorbonne Université, site Pitié-Salpêtrière, Paris, F-75013, France Laboratoire de Neuropathologie R. Escourolle, Pitié-Salpêtrière Charles-Foix University Hospital, Assistance Publique – Hôpitaux de Paris (AP-HP), Sorbonne Université, Paris, 75013, France
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运动神经元受累威胁1型脊髓小脑共济失调患者的生存。
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来源期刊
CiteScore
8.20
自引率
2.00%
发文量
87
审稿时长
6-12 weeks
期刊介绍: Neuropathology and Applied Neurobiology is an international journal for the publication of original papers, both clinical and experimental, on problems and pathological processes in neuropathology and muscle disease. Established in 1974, this reputable and well respected journal is an international journal sponsored by the British Neuropathological Society, one of the world leading societies for Neuropathology, pioneering research and scientific endeavour with a global membership base. Additionally members of the British Neuropathological Society get 50% off the cost of print colour on acceptance of their article.
期刊最新文献
A Homozygous ATP2A2 Variant Alters Sarcoendoplasmic Reticulum Ca2+-ATPase 2 Function in Skeletal Muscle and Causes a Novel Vacuolar Myopathy. Genotype-Phenotype Correlation in Progressive External Ophthalmoplegia: Insights From a Retrospective Analysis. Author Index. Proceedings of the 126th Meeting of the British Neuropathological Society 29-31 January 2025, London, UK. Proceedings of the 126th Meeting of the British Neuropathological Society 29-31 January 2025, London, UK.
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