Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Cecilia Nolli

Biallelic Mutations inDNM1Lare Associated With a Slowly Progressive Infantile Encephalopathy

English

Related publications

Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy

American Journal of Human Genetics

English

Slowly Progressive Encephalopathy With Hearing Loss Due to a Mutation in the mtDNA tRNALeu(CUN) Gene

Journal of the Neurological Sciences

English

Slowly Progressive Foix-Chavany-Marie Syndrome Associated With Chronic Herpes Simplex Encephalitis

Journal of Neurology, Neurosurgery and Psychiatry

English

Biallelic Mutations in LRRC56, Encoding a Protein Associated With Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

American Journal of Human Genetics

English

Case of Slowly Progressive Hemiplegia

Proceedings of the Royal Society of Medicine

English

Biallelic Deleterious BRCA1 Mutations in a Woman With Early-Onset Ovarian Cancer

Cancer Discovery

English

Slowly Progressive Type 1 Diabetes Mellitus Associated With Vitiligo Vulgaris, Chronic Thyroiditis, and Pernicious Anemia

Internal Medicine

Internal Medicine

English

Progressive Infantile Scoliosis Managed With Osteopathic Manipulative Treatment

Journal of the American Osteopathic Association, The

Alternative Medicine

English

Progressive Encephalopathy With Leukodystrophy Due to DECR Deficiency

English