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Publications by R. Uitti

Variant Ataxia-Telangiectasia Presenting as Primary-Appearing Dystonia in Canadian Mennonites

English

TMEM106B Regulates Progranulin Levels and the Penetrance of FTLD in GRN Mutation Carriers

English

Related publications

Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia

Movement Disorders Clinical Practice

English

Variant Forms of Ataxia Telangiectasia.

Journal of Medical Genetics

English

Pearls & Oy-Sters: Spinocerebellar Ataxia Type 3 Presenting With Cervical Dystonia Without Ataxia

English

Ataxia Telangiectasia

Journal of Neurology, Neurosurgery and Psychiatry

English

Familial Ataxia-Telangiectasia

Archives of Disease in Childhood

English

SCA2 Presenting as a Focal Dystonia

Journal of Clinical Movement Disorders

English

Ataxia Telangiectasia: A Review

Orphanet Journal of Rare Diseases

English

ATM (Ataxia Telangiectasia Mutated)

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cancer Research

English

A Case of 16q Linked Autosomal Dominant Cerebellar Ataxia (16q-Adca) Presenting Dystonia

Clinical Neurology

English