| 1 |
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants? ( 30800049
)
|
Nair P...M?garban? A
|
2019 |
| 2 |
Expanding the clinical description of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 30901567
)
|
Briand MM...Gagnon C
|
2019 |
| 3 |
Assessing mobility and balance in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay population: Validity and reliability of four outcome measures. ( 29801904
)
|
Lessard I....Gagnon C.
|
2018 |
| 4 |
Collaborative Science Unites Researchers and a Novel Spastic Ataxia Gene. ( 29908061
)
|
Fogel B.L.
|
2018 |
| 5 |
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 29968200
)
|
Vogel A.P....Synofzik M.
|
2018 |
| 6 |
A Novel Variant in <i>ABCD1</i> Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia. ( 29740390
)
|
Chen Y....Wang K.
|
2018 |
| 7 |
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 29538656
)
|
Parkinson M.H....Giunti P.
|
2018 |
| 8 |
Homozygous<i>CAPN1</i>mutations causing a spastic-ataxia phenotype in 2 families. ( 29379883
)
|
Kocoglu C....Basak A.N.
|
2018 |
| 9 |
<i>GLS</i> loss of function causes autosomal recessive spastic ataxia and optic atrophy. ( 29468182
)
|
Lynch D.S....Houlden H.
|
2018 |
| 10 |
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy. ( 29547997
)
|
Sferra A....Bertini E.
|
2018 |
| 11 |
Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings. ( 29610238
)
|
Biswas A....Mani S.
|
2018 |
| 12 |
Validity and Reliability of Outcome Measures Assessing Dexterity, Coordination, and Upper Limb Strength in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 29462597
)
|
Gagnon C....Mathieu J.
|
2018 |
| 13 |
WITHDRAWN: Assessment of the impact of an exercise program on the physical and functional capacity in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay: An exploratory study. ( 30012892
)
|
|
2018 |
| 14 |
Generation of a human iPSC line from a patient with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) caused by mutation in SACSIN gene. ( 30144656
)
|
Arellano CM...Erceg S
|
2018 |
| 15 |
Revealing Clusters of Connected Pathways through Multisource Data Integration in Huntington's disease and Spastic Ataxia. ( 30176611
)
|
Kakouri A...Spyrou G
|
2018 |
| 16 |
Assessment of the impact of an exercise program on the physical and functional capacity in patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay: An exploratory study. ( 30181935
)
|
Audet O...Leone M
|
2018 |
| 17 |
From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 30231904
)
|
Gagnon C...Mathieu J
|
2018 |
| 18 |
Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child. ( 30271475
)
|
Incecik F...Bisgin A
|
2018 |
| 19 |
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. ( 30308956
)
|
Malekkou A...Christodoulou K
|
2018 |
| 20 |
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. ( 30572172
)
|
Shetty A...Suchowersky O
|
2018 |
| 21 |
A Novel Homozygous SACS Mutation Identified by Whole-Exome Sequencing in a Consanguineous Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28658676
)
|
Zeng H....Tan J.Q.
|
2017 |
| 22 |
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study. ( 28870592
)
|
Bui H.T....Leone M.
|
2017 |
| 23 |
Teaching Video Neuro<i>Images</i>: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS. ( 28972115
)
|
Saffie P....de la Cerda A.
|
2017 |
| 24 |
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. ( 28459997
)
|
Minnerop M....SchA1le R.
|
2017 |
| 25 |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. ( 28658401
)
|
BurguA-z D....Saute J.A.M.
|
2017 |
| 26 |
Purkinje Cell Degeneration and Motor Coordination Deficits in a New Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 28588446
)
|
Ding M....Lu Z.
|
2017 |
| 27 |
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. ( 28575651
)
|
Chelban V....Houlden H.
|
2017 |
| 28 |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations. ( 28843771
)
|
Krygier M....SA8awek J.
|
2017 |
| 29 |
Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 29075231
)
|
Borruat F.X....Bremner F.
|
2017 |
| 30 |
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication. ( 30838287
)
|
Agarwal PA...Ramprasad VL
|
2017 |
| 31 |
Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26917082
)
|
Shah C.T....Shildkrot Y.
|
2016 |
| 32 |
Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family. ( 27980752
)
|
Palmio J....Udd B.
|
2016 |
| 33 |
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. ( 27288452
)
|
Bradshaw T.Y....Chapple J.P.
|
2016 |
| 34 |
Gradually Progressive Spastic Ataxia in a Young Man: Steadily Unsteady. ( 27942721
)
|
Dubey D....Elliott J.L.
|
2016 |
| 35 |
A 62-Year-Old Woman with Spastic Ataxia and Eye Movement Abnormalities. ( 30363471
)
|
Macerollo A...Martino D
|
2016 |
| 36 |
Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26344561
)
|
SA!nchez M.G....Redondo A.G.
|
2015 |
| 37 |
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26288984
)
|
Pilliod J....Coupry I.
|
2015 |
| 38 |
Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. ( 26142023
)
|
Kurt S....Nazli Basak A.
|
2015 |
| 39 |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. ( 26626314
)
|
Choquet K....Brais B.
|
2015 |
| 40 |
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1. ( 25592071
)
|
Bettencourt C....Rizzu P.
|
2015 |
| 41 |
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26530509
)
|
Criscuolo C....Santorelli F.M.
|
2015 |
| 42 |
Exome sequencing &amp; homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. ( 26354221
)
|
Dalal A....Phadke S.R.
|
2015 |
| 43 |
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 26153042
)
|
Kwon K.Y....Koh S.B.
|
2015 |
| 44 |
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. ( 25545641
)
|
Johnson J.O....Singleton A.B.
|
2015 |
| 45 |
Retinal and Pontine Striations: Neurodiagnostic Signs of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 25237835
)
|
Leavitt J.A....Brodsky M.C.
|
2014 |
| 46 |
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 25260547
)
|
LariviA"re R....Brais B.
|
2014 |
| 47 |
A Novel GBA2 Gene Missense Mutation in Spastic Ataxia. ( 24252062
)
|
Votsi C....Christodoulou K.
|
2014 |
| 48 |
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. ( 25417924
)
|
Doi H....Yoshida K.
|
2014 |
| 49 |
Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series. ( 22816526
)
|
Prodi E....Mariotti C.
|
2013 |
| 50 |
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy. ( 23338241
)
|
Dibilio V....Zappia M.
|
2013 |
