1 |
A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.
61
54
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Breckpot J...Devriendt K
|
18398442 |
2008 |
2 |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.
61
54
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Kamada S...Toyoshima I
|
18484239 |
2008 |
3 |
Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay.
54
61
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Garcia A...Berciano J
|
17683082 |
2008 |
4 |
Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.
54
61
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Ouyang Y...Nakano I
|
16606928 |
2006 |
5 |
A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
54
61
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Okawa S...Toyoshima I
|
16421146 |
2006 |
6 |
Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.
54
61
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Criscuolo C...Berciano J
|
16007637 |
2005 |
7 |
Structure of the XPC binding domain of hHR23A reveals hydrophobic patches for protein interaction.
54
61
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Kamionka M...Feigon J
|
15322280 |
2004 |
8 |
Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.
54
61
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El Euch-Fayache G...Hentati F
|
12873855 |
2003 |
9 |
Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay.
54
61
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Mercier J...Richter A
|
11788093 |
2001 |
10 |
Human genetics: lessons from Quebec populations.
54
61
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Scriver CR
|
11701644 |
2001 |
11 |
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.
54
61
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Engert JC...Richter A
|
10655055 |
2000 |
12 |
Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic.
61
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Bogdanova-Mihaylova P...Murphy SM
|
32816195 |
2021 |
13 |
Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.
61
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Majethia P...Girisha KM
|
33559318 |
2021 |
14 |
A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
61
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Samanci B...Hanagasi HA
|
33559790 |
2021 |
15 |
Two cases of early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay diagnosed in adulthood.
61
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Sahin T...Akbostanci MC
|
33348119 |
2021 |
16 |
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontia.
61
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Fellner A...Goldberg Y
|
33491183 |
2021 |
17 |
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
61
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Mereaux JL...Stevanin G
|
33486633 |
2021 |
18 |
Wheelchair mobility, motor performance and participation of adult wheelchair users with ARSACS: a cross-sectional study.
61
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Bourassa J...Best KL
|
33307884 |
2020 |
19 |
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
61
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Emekli AS...Basak AN
|
33210227 |
2020 |
20 |
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.
61
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Bourcier D...Gagnon C
|
32736199 |
2020 |
21 |
Haemagglutinin displayed on the surface of Lactococcus lactis confers broad cross-clade protection against different H5N1 viruses in chickens.
61
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Lei H...Peng X
|
33059676 |
2020 |
22 |
Analyzing Gene Expression Profiles from Ataxia and Spasticity Phenotypes to Reveal Spastic Ataxia Related Pathways.
61
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Kakouri AC...Spyrou GM
|
32937819 |
2020 |
23 |
Measurement properties of wheelchair use assessment tools in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
61
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Bourassa J...Routhier F
|
32981404 |
2020 |
24 |
Absent Foveal Avascular Zone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
61
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Douglas VP...Gaier ED
|
32991389 |
2020 |
25 |
Spinocerebellar ataxia type 48: last but not least.
61
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De Michele G...Santorelli FM
|
32342324 |
2020 |
26 |
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.
61
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Morales-Rosado JA...Klee EW
|
32597037 |
2020 |
27 |
[Spastic ataxia of Charlevoix-Saguenay: Diagnosis made on fundus examination].
61
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Smirnov V...Defoort-Dhellemmes S
|
32591161 |
2020 |
28 |
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
61
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Zech M...Winkelmann J
|
32629324 |
2020 |
29 |
A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.
61
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Almatrafi A...Basit S
|
32246862 |
2020 |
30 |
Pyrostigmine therapy in a patient with VAMP1-related congenital myasthenic syndrome.
61
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Al-Muhaizea MA...Kaya N
|
32616363 |
2020 |
31 |
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
61
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Cai S...Jiang Y
|
32203252 |
2020 |
32 |
Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.
61
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Lorea CF...Saute JAM
|
32146693 |
2020 |
33 |
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) in a Thai Patient: The Classic Clinical Manifestations, Funduscopic Feature, and Brain Imaging Findings with a Novel Mutation in the SACS Gene.
61
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Srikajon J...Srivanitchapoom P
|
32775015 |
2020 |
34 |
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability.
61
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Wijnen IGM...Kamsteeg EJ
|
32157189 |
2020 |
35 |
Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
61
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Martinelli C...Ciofani G
|
32548430 |
2020 |
36 |
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
61
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Van Eyck L...Crow YJ
|
31779033 |
2020 |
37 |
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.
61
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Baderna V...Maltecca F
|
32600459 |
2020 |
38 |
Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature.
61
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Benzoni C...Salsano E
|
32223977 |
2020 |
39 |
SACS Mutation-Positive Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS) from Kerala.
61
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Sheetal S...Byju P
|
32606540 |
2020 |
40 |
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Case Report of a Novel Nonsense Mutation in the SACS Gene.
61
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Agarwal A...Qavi A
|
32606552 |
2020 |
41 |
CAPN1 and hereditary spastic paraplegia: a novel variant in an Iranian family and overview of the genotype-phenotype correlation.
61
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Rahimi Bidgoli MM...Alavi A
|
32352326 |
2020 |
42 |
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8.
61
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Hosseini Bereshneh A...Tavasoli AR
|
32004679 |
2020 |
43 |
Autosomal recessive spastic ataxia of charlevoix-saguenay: Findings from MRI in two adult Italian siblings.
61
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Pensabene MC...Floris R
|
32140197 |
2020 |
44 |
Docosahexaenoic acid in ARSACS: observations in two patients.
61
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Ricca I...Santorelli FM
|
32466761 |
2020 |
45 |
Expanding the clinical and genetic heterogeneity of SPAX5.
61
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Dosi C...Santorelli FM
|
32237276 |
2020 |
46 |
Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula: A case report and review of literature.
61
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Al-Ajmi A...Al-Mulla F
|
32368540 |
2020 |
47 |
Spastic ataxia with eye-of-the-tiger-like sign in 4 siblings due to novel compound heterozygous AFG3L2 mutation.
61
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Calandra CR...Marti MA
|
32248051 |
2020 |
48 |
Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population.
61
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Incecik F...Mungan NO
|
33042236 |
2020 |
49 |
A VPS13D spastic ataxia mutation disrupts the conserved adaptor-binding site in yeast Vps13.
61
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Dziurdzik SK...Conibear E
|
31943017 |
2020 |
50 |
VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia.
61
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Koh K...Takiyama Y
|
31876103 |
2020 |