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Year Number of Results
1976 1
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1989 1
1993 1
1998 2
1999 2
2001 2
2003 2
2005 2
2007 2
2008 2
2009 3
2010 1
2011 2
2012 2
2014 3
2015 4
2016 2
2017 3
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2019 2
2020 3
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2022 5
2023 2
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50 results

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Page 1
Immune-mediated Cerebellar Ataxias: Practical Guidelines and Therapeutic Challenges.
Mitoma H, Manto M, Hampe CS. Mitoma H, et al. Curr Neuropharmacol. 2019;17(1):33-58. doi: 10.2174/1570159X16666180917105033. Curr Neuropharmacol. 2019. PMID: 30221603 Free PMC article. Review.
Immune-mediated cerebellar ataxias (IMCAs), a clinical entity reported for the first time in the 1980s, include gluten ataxia (GA), paraneoplastic cerebellar degenerations (PCDs), antiglutamate decarboxylase 65 (GAD) antibody-associated cerebellar ataxia, pos …
Immune-mediated cerebellar ataxias (IMCAs), a clinical entity reported for the first time in the 1980s, include gluten ataxia (GA), p …
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free article.
BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported i …
BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disor …
Potential clinical utility of multiple system atrophy biomarkers.
Jellinger KA. Jellinger KA. Expert Rev Neurother. 2017 Dec;17(12):1189-1208. doi: 10.1080/14737175.2017.1392239. Epub 2017 Oct 23. Expert Rev Neurother. 2017. PMID: 29023182 Review.
Multiple system atrophy (MSA), an adult-onset, fatal disorder of uncertain etiology, characterized by parkinsonism, cerebellar, autonomic and motor dysfunctions, is an alpha-synucleinopathy with glioneuronal degeneration involving multiple parts of the nervous syste …
Multiple system atrophy (MSA), an adult-onset, fatal disorder of uncertain etiology, characterized by parkinsonism, cerebellar …
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, Heidari M, Hosseinpour S, Amini B, Zokaei S, Rezaei Z, Aryan H, Amanat M, Vahidnezhad H, Mohammadi P, Garshasbi M, Tavasoli AR. Dehnavi AZ, et al. Orphanet J Rare Dis. 2023 Jul 5;18(1):177. doi: 10.1186/s13023-023-02780-9. Orphanet J Rare Dis. 2023. PMID: 37403138 Free PMC article.
Various brain imaging abnormalities were also observed in 26 imaging series of these patients with cerebellar atrophy being the most common finding in more than 50%. Twenty unique variants in 25 patients with PLAN were detected including nine novel variants. ...
Various brain imaging abnormalities were also observed in 26 imaging series of these patients with cerebellar atrophy being th …
Differential diagnosis of cerebellar atrophy in childhood.
Poretti A, Wolf NI, Boltshauser E. Poretti A, et al. Eur J Paediatr Neurol. 2008 May;12(3):155-67. doi: 10.1016/j.ejpn.2007.07.010. Epub 2007 Sep 14. Eur J Paediatr Neurol. 2008. PMID: 17869142 Review.
Starting from the imaging appearance of cerebellar atrophy (CA) we provide checklists for various groups of CA: hereditary CA, postnatally acquired CA, and unilateral CA. ...On the basis of a single study distinction between prenatal onset atrophy, postnatal …
Starting from the imaging appearance of cerebellar atrophy (CA) we provide checklists for various groups of CA: hereditary CA, …
Diagnosis, Classification, and Management of Fourth Ventriculomegaly in Adults: Report of 9 Cases and Literature Review.
Barami K, Chakrabarti I, Silverthorn J, Ciporen J, Akins PT. Barami K, et al. World Neurosurg. 2018 Aug;116:e709-e722. doi: 10.1016/j.wneu.2018.05.073. Epub 2018 May 17. World Neurosurg. 2018. PMID: 29778601 Review.
MATERIALS AND METHODS: This was a retrospective chart review of adult patients with the diagnosis of 4th VM admitted to the intensive care unit in a tertiary care center. RESULTS: Nine patients were identified with 4th VM. ...
MATERIALS AND METHODS: This was a retrospective chart review of adult patients with the diagnosis of 4th VM admitted to the intensive car …
CANVAS: A New Genetic Entity in the Otorhinolaryngologist's Differential Diagnosis.
Costales M, Casanueva R, Suárez V, Asensi JM, Cifuentes GA, Diñeiro M, Cadiñanos J, López F, Álvarez-Marcos C, Otero A, Gómez J, Llorente JL, Cabanillas R. Costales M, et al. Otolaryngol Head Neck Surg. 2022 Jan;166(1):74-79. doi: 10.1177/01945998211008398. Epub 2021 May 4. Otolaryngol Head Neck Surg. 2022. PMID: 33940977
OBJECTIVE: The biallelic inheritance of an expanded intronic pentamer (AAGGG)(exp) in the gene encoding replication factor C subunit 1 (RFC1) has been found to be a cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). ...The clinical diagnosi …
OBJECTIVE: The biallelic inheritance of an expanded intronic pentamer (AAGGG)(exp) in the gene encoding replication factor C subunit 1 (RFC1 …
Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.
Na JH, Lee YM. Na JH, et al. Acta Neurol Scand. 2022 Apr;145(4):414-422. doi: 10.1111/ane.13566. Epub 2021 Dec 7. Acta Neurol Scand. 2022. PMID: 34877647
Brain MRI showed bilateral basal ganglia involvement in all patients, followed by cerebral atrophy, brainstem and thalamus involvement, and cerebellar atrophy. ...
Brain MRI showed bilateral basal ganglia involvement in all patients, followed by cerebral atrophy, brainstem and thalamus involvemen …
Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update.
Poretti A, Wolf NI, Boltshauser E. Poretti A, et al. Neuropediatrics. 2015 Dec;46(6):359-70. doi: 10.1055/s-0035-1564620. Epub 2015 Oct 7. Neuropediatrics. 2015. PMID: 26444039
Cerebellar atrophy (CA) is a relatively common, but nonspecific finding in pediatric neurology and neuroradiology. ...Finally, we discuss some rules with their exceptions related to pediatric CA, discrepancies between clinical and neuroimaging course, and the diffic …
Cerebellar atrophy (CA) is a relatively common, but nonspecific finding in pediatric neurology and neuroradiology. ...Finally, …
Cerebellar involvement in patients withprimary Sjogren's syndrome: diagnosis and treatment.
Yang H, Sun Y, Zhao L, Zhang X, Zhang F. Yang H, et al. Clin Rheumatol. 2018 May;37(5):1207-1213. doi: 10.1007/s10067-018-4000-y. Epub 2018 Jan 29. Clin Rheumatol. 2018. PMID: 29380161
The aim of this study is to describe the clinical features of cerebellar involvement in patients with primary Sjogren's syndrome (pSS). ...Of the patients, 81.8% (9/11) had abnormal cerebrospinal fluid findings, and 11 patients (84.6%) had cerebellar atrophy …
The aim of this study is to describe the clinical features of cerebellar involvement in patients with primary Sjogren's syndrome (pSS …
50 results