• 3560 Citations
  • 33 h-Index
1984 …2019
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Fingerprint Dive into the research topics where Barbara Garavaglia is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 34 Similar Profiles
Mutation Medicine & Life Sciences
Pantothenate Kinase-Associated Neurodegeneration Medicine & Life Sciences
Genes Medicine & Life Sciences
Dystonia Medicine & Life Sciences
Fibroblasts Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Iron Medicine & Life Sciences
Parkinson Disease Medicine & Life Sciences

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Research Output 1984 2019

Corrigendum to “Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum” [Brain Dev. 41 (2019) 250–256] (Brain and Development (2019) 41(3) (250–256), (S0387760418304959), (10.1016/j.braindev.2018.10.001))

Iodice, A., Carecchio, M., Zorzi, G., Garavaglia, B., Spagnoli, C., Salerno, G. G., Frattini, D., Mencacci, N. E., Invernizzi, F., Veneziano, L., Mantuano, E., Angriman, M. & Fusco, C., Jan 1 2019, In : Brain and Development.

Research output: Contribution to journalComment/debate

Open Access
Restless Legs Syndrome
Chorea
Brain Diseases
Mutation
Brain

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Aicardi Syndrome
Interferons
Molecular Biology
Mutation
Genes
2 Citations (Scopus)

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Deciphering Developmental Disorders Study & SYNAPS Study Group, Apr 4 2019, In : American Journal of Human Genetics. 104, 4, p. 721-730 10 p.

Research output: Contribution to journalArticle

Open Access
Vesicle-Associated Membrane Protein 2
SNARE Proteins
Synaptic Membranes
Membrane Fusion
Mutation
1 Citation (Scopus)

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′-phosphate supplementation

for the Care4Rare Canada Consortium and the SYNaPS Study Group, Aug 1 2019, In : Annals of Neurology. 86, 2, p. 225-240 16 p.

Research output: Contribution to journalArticle

Open Access
Pyridoxal Phosphate
Polyneuropathies
Mutation
Optic Atrophy
Adenosine Triphosphate
1 Citation (Scopus)

Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?

Invernizzi, F., Zorzi, G., Legati, A., Coppola, G., D'Adamo, P., Nardocci, N., Garavaglia, B. & Ghezzi, D., Oct 1 2018, In : European Journal of Medical Genetics. 61, 10, p. 581-584 4 p.

Research output: Contribution to journalArticle

Chorea
Haploinsufficiency
Hypothyroidism
Nervous System Diseases
Point Mutation