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Publications by Cecilia Marelli
SCA15 Due to Large ITPR1 Deletions in a Cohort of 333 White Families With Dominant Ataxia
Archives of Neurology
A Serine Synthesis Defect Presenting With a Charcot-Marie-Tooth–Like Polyneuropathy
Archives of Neurology
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Analyses of Del(GJB6‐D13S1830) and Del(GJB6‐D13S1834) Deletions in a Large Cohort With Hearing Loss: Caveats to Interpretation of Molecular Test Results in Multiplex Families
Molecular genetics & genomic medicine
Genetics
Molecular Biology
Correction: Mutational Analysis of ITPR1 in a Taiwanese Cohort With Cerebellar Ataxias
PLoS ONE
Multidisciplinary
Pituitary Responses to a Neuroactive Tripeptide (TRH) in Friedreich’s Ataxia Families
Canadian Journal of Neurological Sciences
Medicine
Neurology
Genomic Mechanisms underlyingPARK2large Deletions Identified in a Cohort of Patients With PD
Neurology: Genetics
Neurology
Genetics
Autosomal Dominant Cerebellar Ataxia With Deafness, Myoclonus and Amyotrophy.
Journal of Neurology, Neurosurgery and Psychiatry
Psychiatry
Mental Health
Neurology
Surgery
Severe Congenital Cutis Laxa With Cardiovascular Manifestations Due to Homozygous Deletions in ALDH18A1
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Families Coping With Disability Due to Brain Injury in Oman
SAGE Open
Arts
Social Sciences
Humanities
Accuracy of Genomic Selection Models in a Large Population of Open-Pollinated Families in White Spruce
Heredity
Genetics
Progressive Ataxia Due to a Missense Mutation in a Calcium-Channel Gene
American Journal of Human Genetics
Genetics
