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Biancheri, Roberta
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1

TUBB4A-related hypomyelinating leukodystrophy: New insights..:

Tonduti, Davide ; Aiello, Chiara ; Renaldo, Florence...
European Journal of Paediatric Neurology.  20 (2016)  2 - p. 323-330 , 2016
Link: https://doi.org/10.1016/..
 
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2

The leukodystrophy protein FAM126A (hyccin) regulates PtdIn..:

Baskin, Jeremy M. ; Wu, Xudong ; Christiano, Romain...
Nature Cell Biology.  18 (2015)  1 - p. 132-138 , 2015
Link: https://doi.org/10.1038/..
 
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3

The genotypic and phenotypic spectrum of PIGA deficiency:

Tarailo-Graovac, Maja ; Sinclair, Graham ; Stockler-Ipsiroglu, Sylvia...
Orphanet Journal of Rare Diseases.  10 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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4

Expansion of the QARS deficiency phenotype with report of a..:

Salvarinova, Ramona ; Ye, Cynthia X. ; Rossi, Andrea...
neurogenetics.  16 (2014)  2 - p. 145-149 , 2014
Link: https://doi.org/10.1007/..
 
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5

A novel homozygous MCOLN1 double mutant allele leading to T..:

Mirabelli-Badenier, Marisol ; Severino, Mariasavina ; Tappino, Barbara...
Metabolic Brain Disease.  30 (2014)  3 - p. 681-686 , 2014
Link: https://doi.org/10.1007/..
 
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6

Acute post-infectious cerebellar ataxia due to co-infection..:

Naselli, Aldo ; Pala, Giovanna ; Cresta, Federico...
Italian Journal of Pediatrics.  40 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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7

Periventricular nodular heterotopia in Smith‐Magenis syndro..:

Capra, Valeria ; Biancheri, Roberta ; Morana, Giovanni...
American Journal of Medical Genetics Part A.  164 (2014)  12 - p. 3142-3147 , 2014
Link: https://doi.org/10.1002/..
 
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8

Heterozygous deletion of CHL1 gene: Detailed array-CGH and ..:

Tassano, Elisa ; Biancheri, Roberta ; Denegri, Laura...
European Journal of Medical Genetics.  57 (2014)  11-12 - p. 626-629 , 2014
Link: https://doi.org/10.1016/..
 
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9

A novel homozygous splicing mutation in PSAP gene causes me..:

Siri, Laura ; Rossi, Andrea ; Lanza, Federica...
neurogenetics.  15 (2014)  2 - p. 101-106 , 2014
Link: https://doi.org/10.1007/..
 
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10

Cranial nerve and cauda equina contrast enhancement in Cock..:

Biancheri, Roberta ; Mancardi, Maria Margherita ; Celle, Maria Elena..
Neurology.  83 (2014)  17 - p. 1581-1581 , 2014
Link: https://doi.org/10.1212/..
 
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11

Hypomyelination and congenital cataract: Identification of ..:

Traverso, Monica ; Yuregir, Ozge Ozalp ; Mimouni-Bloch, Aviva...
European Journal of Paediatric Neurology.  17 (2013)  1 - p. 108-111 , 2013
Link: https://doi.org/10.1016/..
 
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12

Further genotype–phenotype correlation emerging from two fa..:

Biancheri, Roberta ; Grossi, Serena ; Regis, Stefano...
Clinical Genetics.  85 (2013)  3 - p. 267-272 , 2013
Link: https://doi.org/10.1111/..
 
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13

EXOSC3 mutations in isolated cerebellar hypoplasia and spin..:

Biancheri, Roberta ; Cassandrini, Denise ; Pinto, Francesca...
Journal of Neurology.  260 (2013)  7 - p. 1866-1870 , 2013
Link: https://doi.org/10.1007/..
 
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14

Molecular epidemiology of childhood neuronal ceroid-lipofus..:

Santorelli, Filippo Maria ; Garavaglia, Barbara ; Cardona, Francesco...
Orphanet Journal of Rare Diseases.  8 (2013)  1 - p. , 2013
Link: https://doi.org/10.1186/..
 
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15

Anti-N-Methyl-d-aspartate-receptor encephalitis: Cognitive ..:

Iadisernia, Enzo ; Battaglia, Francesca Maria ; Vanadia, Elena...
European Journal of Paediatric Neurology.  16 (2012)  1 - p. 79-82 , 2012
Link: https://doi.org/10.1016/..
 
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