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Page 1
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Traschütz A, Adarmes-Gómez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanağası HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD; PREPARE Consortium; Synofzik M. Traschütz A, et al. Ann Neurol. 2023 Sep;94(3):470-485. doi: 10.1002/ana.26712. Epub 2023 Jun 12. Ann Neurol. 2023. PMID: 37243847
SARA captured mild-to-moderate progression in many genotypes (eg, SYNE1-ataxia: 0.55 points/yr, ataxia with oculomotor apraxia type 2: 1.14 points/yr, POLG-ataxia: 1.56 points/yr), but no change in others (autosomal recessive spastic ataxia of Charlevo …
SARA captured mild-to-moderate progression in many genotypes (eg, SYNE1-ataxia: 0.55 points/yr, ataxia with oculomotor apraxia type 2: 1
Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study.
Lessard I, Côté I, St-Gelais R, Hébert LJ, Brais B, Mathieu J, Rodrigue X, Gagnon C. Lessard I, et al. Cerebellum. 2024 Apr;23(2):489-501. doi: 10.1007/s12311-023-01558-w. Epub 2023 Apr 27. Cerebellum. 2024. PMID: 37101017
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurologic disorder with generally well-known clinical manifestations. ...These results provide fundamental insights regarding the disease prognosis that will help to better inform patien …
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurologic disorder with generally well-known clini
Documenting the psychometric properties of the scale for the assessment and rating of ataxia to advance trial readiness of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
Bourcier D, Bélanger M, Côté I, Brais B, Synofzik M, Brisson JD, Rodrigue X, Gagnon MM, Mathieu J, Gagnon C. Bourcier D, et al. J Neurol Sci. 2020 Oct 15;417:117050. doi: 10.1016/j.jns.2020.117050. Epub 2020 Jul 18. J Neurol Sci. 2020. PMID: 32736199
BACKGROUND: The Scale for the Assessment and Rating of Ataxia (SARA) is a commonly used scale measuring the severity of cerebellar ataxia and is a candidate for outcome measurement in foreseeable clinical trials in Autosomal Recessive Spastic Ataxia of Charle …
BACKGROUND: The Scale for the Assessment and Rating of Ataxia (SARA) is a commonly used scale measuring the severity of cerebellar ataxia an …
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
Al-Muhaizea MA, AlQuait L, AlRasheed A, AlHarbi S, Albader AA, AlMass R, Albakheet A, Alhumaidan A, AlRasheed MM, Colak D, Kaya N. Al-Muhaizea MA, et al. Neuromuscul Disord. 2020 Jul;30(7):611-615. doi: 10.1016/j.nmd.2020.04.007. Epub 2020 May 15. Neuromuscul Disord. 2020. PMID: 32616363
One such gene, VAMP1, encodes vesicle-associated membrane protein-1, which is crucial in the formation and fusion of synaptic vesicles with the presynaptic membrane at the neuromuscular junction. VAMP1 mutations are associated with two main phenotypes: a) autosomal recessi …
One such gene, VAMP1, encodes vesicle-associated membrane protein-1, which is crucial in the formation and fusion of synaptic vesicle …
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Gagnon C, Brais B, Lessard I, Lavoie C, Côté I, Mathieu J. Gagnon C, et al. Orphanet J Rare Dis. 2018 Sep 19;13(1):165. doi: 10.1186/s13023-018-0898-z. Orphanet J Rare Dis. 2018. PMID: 30231904 Free PMC article.
BACKGROUND: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a recessive neurological disorder with cerebellar, pyramidal and neuropathic features. Natural history data are urgently needed to increase trial readiness. This study aimed to …
BACKGROUND: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a recessive neurological disorder with cereb …
Current and Promising Therapies in Autosomal Recessive Ataxias.
Picher-Martel V, Dupre N. Picher-Martel V, et al. CNS Neurol Disord Drug Targets. 2018;17(3):161-171. doi: 10.2174/1871527317666180419115029. CNS Neurol Disord Drug Targets. 2018. PMID: 29676235 Review.
CONCLUSION: The aim of this review is to provide a comprehensive clinical profile and to review the currently available therapies. We overview the physiopathology, neurological features and diagnostic approach of the common recessive ataxias. The emphasis is also made on p …
CONCLUSION: The aim of this review is to provide a comprehensive clinical profile and to review the currently available therapies. We …
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease.
Rosafio F, Cavallieri F, Guaraldi P, Taroni F, Nichelli PF, Mandrioli J. Rosafio F, et al. Clin Neurol Neurosurg. 2016 Apr;143:1-3. doi: 10.1016/j.clineuro.2016.01.032. Epub 2016 Feb 4. Clin Neurol Neurosurg. 2016. PMID: 26874936
CTX is characterized by the association of early non-neurological manifestations and adult-onset neurological dysfunctions (spastic ataxia, dementia, psychiatric disorders, peripheral neuropathy). ...This mutation has not been described before in Italy, and has been …
CTX is characterized by the association of early non-neurological manifestations and adult-onset neurological dysfunctions (spastic
Milliary tuberculosis with unusual paradoxical response at 3 weeks of antituberculous treatment.
Chaudhry LA, Ebtesam Ba-Essa, Al-Solaiman S. Chaudhry LA, et al. J Coll Physicians Surg Pak. 2012 Jan;22(1):43-5. J Coll Physicians Surg Pak. 2012. PMID: 22237190
The initial response to treatment was remarkable but after about 3 weeks of anti-TB therapy, she suddenly deteriorated developing spastic ataxia. After exclusion of other possible causes she was successfully treated under the impression of having PR....
The initial response to treatment was remarkable but after about 3 weeks of anti-TB therapy, she suddenly deteriorated developing spastic
Impact of asymptomatic nodavirus carrier state and intraperitoneal viral mimic injection on brain transcript expression in Atlantic cod (Gadus morhua).
Rise ML, Hall JR, Rise M, Hori TS, Browne MJ, Gamperl AK, Hubert S, Kimball J, Bowman S, Johnson SC. Rise ML, et al. Physiol Genomics. 2010 Jul 7;42(2):266-80. doi: 10.1152/physiolgenomics.00168.2009. Epub 2010 May 4. Physiol Genomics. 2010. PMID: 20442246
Reciprocal suppression subtractive hybridization (SSH) cDNA libraries enriched for virus-responsive brain transcripts were constructed and characterized. We generated 1,938 expressed sequence tags (ESTs) from a forward brain SSH library (enriched for transcripts upregulate …
Reciprocal suppression subtractive hybridization (SSH) cDNA libraries enriched for virus-responsive brain transcripts were constructed and c …
Organophosphate-induced delayed polyneuropathy.
Lotti M, Moretto A. Lotti M, et al. Toxicol Rev. 2005;24(1):37-49. doi: 10.2165/00139709-200524010-00003. Toxicol Rev. 2005. PMID: 16042503 Review.
It is characterised by distal degeneration of some axons of both the peripheral and central nervous systems occurring 1-4 weeks after single or short-term exposures. Cramping muscle pain in the lower limbs, distal numbness and paraesthesiae occur, followed by progressive w …
It is characterised by distal degeneration of some axons of both the peripheral and central nervous systems occurring 1-4 weeks after …