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Meschini, Maria Chiara
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1

CLN8 is an endoplasmic reticulum cargo receptor that regula..:

di Ronza, Alberto ; Bajaj, Lakshya ; Sharma, Jaiprakash...
Nature Cell Biology.  20 (2018)  12 - p. 1370-1377 , 2018
Link: https://doi.org/10.1038/..
 
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2

Mitochondrial dysfunction in hereditary spastic paraparesis..:

Mignarri, Andrea ; Rubegni, Anna ; Tessa, Alessandra...
Journal of the Neurological Sciences.  362 (2016)  - p. 287-291 , 2016
Link: https://doi.org/10.1016/..
 
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3

Mitochondrial respiratory chain defects in skin fibroblasts..:

Doccini, Stefano ; Meschini, Maria Chiara ; Mei, Davide...
Neurological Sciences.  36 (2015)  11 - p. 2151-2155 , 2015
Link: https://doi.org/10.1007/..
 
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4

Additive effect of nuclear and mitochondrial mutations in a..:

Nesti, Claudia ; Meschini, Maria Chiara ; Meunier, Brigitte...
Human Molecular Genetics.  24 (2015)  11 - p. 3248-3256 , 2015
Link: https://doi.org/10.1093/..
 
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5

Novel MTCYB mutation in a young patient with recurrent stro..:

Mancuso, Michelangelo ; Nesti, Claudia ; Ienco, Elena Caldarazzo...
American Journal of Medical Genetics Part A.  164 (2014)  11 - p. 2922-2925 , 2014
Link: https://doi.org/10.1002/..
 
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6

A Novel SUCLA2 Mutation in a Portuguese Child Associated Wi..:

Nogueira, Célia ; Meschini, Maria Chiara ; Nesti, Claudia...
Journal of Child Neurology.  30 (2014)  2 - p. 228-232 , 2014
Link: https://doi.org/10.1177/..
 
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7

Dopamine-agonist responsive Parkinsonism in a patient with ..:

Bandettini di Poggio, Monica ; Nesti, Claudia ; Bruno, Claudio...
BMC Medical Genetics.  14 (2013)  1 - p. , 2013
Link: https://doi.org/10.1186/..
 
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8

Novel TTC19 mutation in a family with severe psychiatric ma..:

Nogueira, Célia ; Barros, José ; Sá, Maria José...
neurogenetics.  14 (2013)  2 - p. 153-160 , 2013
Link: https://doi.org/10.1007/..
 
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9

TRPV4 mutations in children with congenital distal spinal m..:

Fiorillo, Chiara ; Moro, Francesca ; Brisca, Giacomo...
neurogenetics.  13 (2012)  3 - p. 195-203 , 2012
Link: https://doi.org/10.1007/..
 
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10

TMEM70: a mutational hot spot in nuclear ATP synthase defic..:

Torraco, Alessandra ; Verrigni, Daniela ; Rizza, Teresa...
neurogenetics.  13 (2012)  4 - p. 375-386 , 2012
Link: https://doi.org/10.1007/..
 
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11

Pontocerebellar hypoplasia type 6 caused by mutations in RA..:

Cassandrini, Denise ; Cilio, Maria Roberta ; Bianchi, Marzia...
Journal of Inherited Metabolic Disease.  36 (2012)  1 - p. 43-53 , 2012
Link: https://doi.org/10.1007/..
 
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12

Progressive cavitating leukoencephalopathy associated with ..:

Ferreira, Mariana ; Torraco, Alessandra ; Rizza, Teresa...
neurogenetics.  12 (2011)  1 - p. 9-17 , 2011
Link: https://doi.org/10.1007/..
 
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13

Understanding pyrroline‐5‐carboxylate synthetase deficiency..:

Martinelli, Diego ; Häberle, Johannes ; Rubio, Vicente...
Journal of Inherited Metabolic Disease.  35 (2011)  5 - p. 761-776 , 2011
Link: https://doi.org/10.1007/..
 
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14

Cardiolipin content in mitochondria from cultured skin fibr..:

El-Hafidi, Mohammed ; Meschini, Maria Chiara ; Rizza, Teresa...
Journal of Bioenergetics and Biomembranes.  43 (2011)  6 - p. 683-690 , 2011
Link: https://doi.org/10.1007/..
 
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15

Mitochondrial DNA depletion syndromes: an update:

Deodato, Federica ; Lucioli, Simona ; Rizzo, Cristiano...
Paediatrics and Child Health.  19 (2009)  - p. S32-S37 , 2009
Link: https://doi.org/10.1016/..
 
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