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Publications by Adi Shohet
Variant in SCYL1 Gene Causes Aberrant Splicing in a Family With Cerebellar Ataxia, Recurrent Episodes of Liver Failure, and Growth Retardation
European Journal of Human Genetics
Genetics
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Wfs1 Gene Deletion Causes Growth Retardation in Mice and Interferes With the Growth Hormone Pathway
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Characterization of a Novel Zebrafish (Danio Rerio) Gene, Wdr81, Associated With Cerebellar Ataxia, Mental Retardation and Dysequilibrium Syndrome (CAMRQ)
BMC Neuroscience
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Spastic Paraparesis, Cerebellar Ataxia, and Intention Tremor: A Severe Variant of FXTAS?
Journal of Medical Genetics
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Early Clinical Features Differentiate Cerebellar Variant MSA and Sporadic Ataxia
Canadian Journal of Neurological Sciences
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A FRMD7 Variant in a Japanese Family Causes Congenital Nystagmus
Human Genome Variation
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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
American Journal of Human Genetics
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A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa
Acta Dermato-Venereologica
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Familial Agenesis of the Cerebellar Vermis: A Syndrome of Episodic Hyperpnea, Abnormal Eye Movements, Ataxia, and Retardation
Neurology
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Cerebellar TMS in Treatment of a Patient With Cerebellar Ataxia: Evidence From Clinical, Biomechanics and Neurophysiological Assessments
Cerebellum
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