Rare neurological diseases

ISSN: 1750-1172 (Online)

In this topical collection (178 articles)

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  1. Research

    Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis

    Tarin A. Europa, Melissa Nel, Jeannine M. Heckmann Article:346
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  2. Research

    Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations

    Meng Yu, Ying Zhu, Yuanyuan Lu, He Lv, Wei Zhang… Article:344
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  3. Research

    A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

    Na Xu, Hui Lv, Tingting Yang, Xiujuan Du, Yu Sun… Article:335
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  4. Research

    Gut microbiome signature of Viliuisk encephalomyelitis in Yakuts includes an increase in microbes linked to lean body mass and eating behaviour

    Veronika Kuznetsova, Alexander Tyakht… Article:327
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  5. Research

    Pain drawings as a diagnostic tool for the differentiation between two pain-associated rare diseases (Ehlers-Danlos-Syndrome, Guillain-Barré-Syndrome)

    Larissa Wester, Martin Mücke… Article:323
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  6. Research

    Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method

    Ha Trang, Pauline Bourgeois, Fawzia Cheliout-Heraut Article:322
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  7. Research

    Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

    Qing-Qing Tao, Yun Zhang, Hui-Xia Lin, Hai-Lin Dong… Article:282
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  8. Review

    Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses

    Amjad Samara, Rachel Rahn, Olga Neyman, Ki Yun Park… Article:279
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  9. Research

    Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region

    Inmaculada Pagola-Lorz, Esther Vicente, Berta Ibáñez… Article:276
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  10. Research

    Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat

    A. Imanishi, T. Kawazoe, Y. Hamada, T. Kumagai… Article:269
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  11. Research

    Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1

    Kelly Schoch, Allyn McConkie-Rosell, Nicole Walley… Article:269
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  12. Research

    Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit

    Carla Pérez-Rius, Mónica Folgueira… Article:268
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  13. Research

    Phenotypic diversity in an international Cure VCP Disease registry

    Chiseko Ikenaga, Andrew R. Findlay, Michelle Seiffert… Article:267
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  14. Research

    Prevalence, mortality and healthcare economic burden of tuberous sclerosis in Hong Kong: a population-based retrospective cohort study (1995–2018)

    William Ching-Yuen Chu, Lorraine Lok-Wing Chiang… Article:264
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  15. Research

    Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data

    Federica Pondrelli, Raffaella Minardi… Article:263
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  16. Research

    Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1

    Antonia Assunto, Ursula Ferrara, Alessandro De Luca… Article:261
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  17. Research

    Automated assessment of foot elevation in adults with hereditary spastic paraplegia using inertial measurements and machine learning

    Malte Ollenschläger, Patrick Höfner, Martin Ullrich… Article:249
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  18. Research

    The effect of impulsivity and inhibitory control deficits in the saccadic behavior of premanifest Huntington’s disease individuals

    Filipa Júlio, Gina Caetano, Cristina Januário… Article:246
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  19. Research

    Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan

    Wakako Yoshioka, Naoyuki Miyasaka, Ryo Okubo… Article:245
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  20. Research

    The natural history of Canavan disease: 23 new cases and comparison with patients from literature

    Annette Bley, Jonas Denecke, Alfried Kohlschütter… Article:227
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