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S. Ashtiani · SciRah

Researcher profile · Semantic Scholar

S. Ashtiani

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S. Ashtiani — researcher profile on SciRah

h-index: 6
Works: 19
Citations: 277

Most-cited papers

Clinical and genetic study of hereditary spastic paraplegia in Canada
N. Chrestian, N. Dupré, Z. Gan-or, A. Szuto +17 more
2016Neurology: Genetics106 citations Open access
Semantic Scholar
Parents' experiences of receiving their child's genetic diagnosis: A qualitative study to inform clinical genetics practice
S. Ashtiani, Nancy Makela, P. Carrion, J. Austin
2014American Journal of Medical Genetics. Part A81 citations Open access
Semantic Scholar
CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.
Aakash Shetty, Z. Gan-or, S. Ashtiani, J. Ruskey +5 more
2019European Journal of Medical Genetics26 citations
Semantic Scholar
Genetic, structural and clinical analysis of spastic paraplegia 4
P. Varghaei, M. Estiar, S. Ashtiani, S. Veyron +13 more
2021medRxiv25 citations Open access
Semantic Scholar
Hereditary spastic paraplegia initially diagnosed as cerebral palsy
O. Suchowersky, S. Ashtiani, P. Au, Scott A McLeod +3 more
2021Clinical Parkinsonism & Related Disorders13 citations Open access
Semantic Scholar
The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy
C. Cherian, J. Appendino, S. Ashtiani, P. Federico +5 more
2021Journal of Neurology12 citations
Semantic Scholar
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration
L. Laugwitz, R. Buchert, P. Olguín, M. Estiar +46 more
2025American Journal of Human Genetics5 citations Open access
Semantic Scholar
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies
A. Accogli, M. Zaki, M. Al-Owain, Mansour Y. Otaif +42 more
2023Brain Communications4 citations Open access
Semantic Scholar
Identification of a Second‐Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?
A. Al-Sayed, Zainab Hakim, Daria Merrikh, Maryam Khanbabaei +13 more
2025American Journal of Medical Genetics. Part A3 citations Open access
Semantic Scholar
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders
M. Estiar, E. Yu, P. Varghaei, Jay P. Ross +22 more
2025medRxiv2 citations Open access
Semantic Scholar
CAPN1: novel mutations expanding the phenotype of hereditary spastic paraparesis. (P6.039)
Aakash Shetty, S. Ashtiani, Z. Gan-or, B. C. van de Warrenburg +3 more
2018Neurology2 citations
Semantic Scholar
Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance
E. Gillesse, M. Wan, S. Ashtiani, O. Suchowersky +5 more
2026Neurogenetics1 citations Open access
Semantic Scholar
Hereditary Spastic Paraplegia in Alberta: Lessons from a Well‐Defined Cohort Including the Indigenous Population
E. Assaedi, S. Ashtiani, M. Estiar, Z. Gan-or +4 more
2025Movement Disorders Clinical Practice1 citations Open access
Semantic Scholar
Hereditary Spastic Paraplegia: Clinicogenetic Lessons from a Well-Defined Cohort (4943)
Ekhlas Assaedi, S. Ashtiani, M. Estiar, Z. Gan-or +4 more
2021Neurology0 citations
Semantic Scholar
Hereditary Spastic Paraplegia: Clinical & Genetic Characterization of the Alberta Cohort (P6.037)
Hammad Shaikh, A. Venkitachalam, S. Ashtiani, Aakash Shetty +4 more
2018Neurology0 citations
Semantic Scholar
Functional Outcomes in Hereditary Spastic Paraplegia: A Prospective Cohort Study (S43.005)
N. Chrestian, N. Dupré, J. Brisson, Z. Gan-or +15 more
2016Neurology0 citations
Semantic Scholar
Hereditary Spastic Paraplegia: Characterization of an Albertan Cohort (P6.010)
A. Venkitachalam, E. McKenzie, S. Ashtiani, C. Huculak +2 more
2015Neurology0 citations
Semantic Scholar
C9orf 72 repeat expansions in a Canadian provincial cohort (P2.066)
A. Venkitachalam, Stacey Hume, S. Ashtiani, S. Christian +1 more
2015Neurology0 citations
Semantic Scholar
A COMPARATIVE STUDY ON THE FACTORS AFFECTING MULTIMEDIA TRANSLATION
H. Vossoughi, S. Ashtiani
20060 citations
Semantic Scholar

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