| 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 |
Revealing Clusters of Connected Pathways Through Multisource Data Integration in Huntington's Disease and Spastic Ataxia. ( 30176611
)
|
Kakouri AC...Spyrou GM
|
2019 |
| 4 |
A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia. ( 29740390
)
|
Chen Y...Wang K
|
2018 |
| 5 |
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 |
| 6 |
Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child. ( 30271475
)
|
Incecik F...Bisgin A
|
2018 |
| 7 |
Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. ( 30308956
)
|
Malekkou A...Christodoulou K
|
2018 |
| 8 |
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia. ( 30572172
)
|
Shetty A...Suchowersky O
|
2018 |
| 9 |
Homozygous CAPN1 mutations causing a spastic-ataxia phenotype in 2 families. ( 29379883
)
|
Kocoglu C...Basak AN
|
2018 |
| 10 |
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 |
| 11 |
GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy. ( 29468182
)
|
Lynch DS...Houlden H
|
2018 |
| 12 |
Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 29538656
)
|
Parkinson MH...Giunti P
|
2018 |
| 13 |
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy. ( 29547997
)
|
Sferra A...Bertini E
|
2018 |
| 14 |
Teaching NeuroImages: Autosomal recessive spastic ataxia of Charlevoix-Saguenay: Typical MRI findings. ( 29610238
)
|
Biswas A...Mani S
|
2018 |
| 15 |
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 |
| 16 |
Collaborative science unites researchers and a novel spastic ataxia gene. ( 29908061
)
|
Fogel BL
|
2018 |
| 17 |
Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ( 29968200
)
|
Vogel AP...Synofzik M
|
2018 |
| 18 |
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 |
| 19 |
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 |
| 20 |
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 |
| 21 |
Gradually Progressive Spastic Ataxia in a Young Man: Steadily Unsteady. ( 27942721
)
|
Dubey D...Elliott JL
|
2017 |
| 22 |
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. ( 28459997
)
|
Minnerop M...Sch?le R
|
2017 |
| 23 |
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. ( 28575651
)
|
Chelban V...Houlden H
|
2017 |
| 24 |
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 |
| 25 |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil. ( 28658401
)
|
Burgu?z D...Saute JAM
|
2017 |
| 26 |
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 JQ
|
2017 |
| 27 |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) - A Polish family with novel SACS mutations. ( 28843771
)
|
Krygier M...S?awek J
|
2017 |
| 28 |
Computer-based assessment of upper-limb incoordination in autosomal recessive spastic ataxia of Charlevoix-Saguenay patients: A pilot study. ( 28870592
)
|
Bui HT...Leone M
|
2017 |
| 29 |
Teaching Video NeuroImages: Spastic ataxia syndrome: The Friedreich-like phenotype of ARSACS. ( 28972115
)
|
Saffie P...de la Cerda A
|
2017 |
| 30 |
Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 29075231
)
|
Borruat FX...Bremner F
|
2017 |
| 31 |
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 |
| 32 |
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. ( 26626314
)
|
Choquet K...Brais B
|
2016 |
| 33 |
Foveal hypoplasia in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26917082
)
|
Shah CT...Shildkrot Y
|
2016 |
| 34 |
A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. ( 27288452
)
|
Bradshaw TY...Chapple JP
|
2016 |
| 35 |
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 |
| 36 |
A 62-Year-Old Woman with Spastic Ataxia and Eye Movement Abnormalities. ( 30363471
)
|
Macerollo A...Martino D
|
2016 |
| 37 |
Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 25260547
)
|
Larivi?re R...Brais B
|
2015 |
| 38 |
A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome. ( 25545641
)
|
Johnson JO...Singleton AB
|
2015 |
| 39 |
Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1. ( 25592071
)
|
Bettencourt C...Rizzu P
|
2015 |
| 40 |
Coexistence of autosomal recessive spastic ataxia of Charlevoix Saguenay and spondyloepiphyseal dysplasia in a Turkish patient. ( 26142023
)
|
Kurt S...Nazli Basak A
|
2015 |
| 41 |
A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. ( 26153042
)
|
Kwon KY...Koh SB
|
2015 |
| 42 |
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26288984
)
|
Pilliod J...Coupry I
|
2015 |
| 43 |
Novel SACS mutation in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26344561
)
|
S?nchez MG...Redondo AG
|
2015 |
| 44 |
Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family. ( 26354221
)
|
Dalal A...Phadke SR
|
2015 |
| 45 |
Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 26530509
)
|
Criscuolo C...Santorelli FM
|
2015 |
| 46 |
A novel GBA2 gene missense mutation in spastic ataxia. ( 24252062
)
|
Votsi C...Christodoulou K
|
2014 |
| 47 |
Retinal and pontine striations: neurodiagnostic signs of autosomal recessive spastic ataxia of Charlevoix-Saguenay. ( 25237835
)
|
Leavitt JA...Brodsky MC
|
2014 |
| 48 |
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation. ( 25417924
)
|
Doi H...Yoshida K
|
2014 |
| 49 |
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. ( 23857099
)
|
Doi H...Matsumoto N
|
2013 |
| 50 |
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 |
