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Speziani, Fiorella
21  Ergebnisse:
Personensuche X
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1

An Ugo1-like protein is associated with optic atrophy 'plus..:

Abrams, Alexander J. ; Hufnagel, Robert B. ; Rebelo, Adriana...
Mitochondrion.  24 (2015)  - p. S16 , 2015
Link: https://doi.org/10.1016/..
 
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2

Mutations in SLC25A46, encoding a UGO1-like protein, cause ..:

Abrams, Alexander J ; Hufnagel, Robert B ; Rebelo, Adriana...
Nature Genetics.  47 (2015)  8 - p. 926-932 , 2015
Link: https://doi.org/10.1038/..
 
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3

A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 d..:

Gonzalez, Michael A. ; Feely, Shawna M. ; Speziani, Fiorella...
Brain.  137 (2014)  11 - p. 2897-2902 , 2014
Link: https://doi.org/10.1093/..
 
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4

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by ..:

Landouré, Guida ; Zhu, Peng-Peng ; Lourenço, Charles M....
Human Mutation.  34 (2013)  10 - p. 1357-1360 , 2013
Link: https://doi.org/10.1002/..
 
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5

Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetr..:

Varga, Rita-Eva ; Schüle, Rebecca ; Fadel, Hicham...
Human Mutation.  34 (2013)  6 - p. 860-863 , 2013
Link: https://doi.org/10.1002/..
 
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6

GEnomes Management Application (GEM.app): A New Software To..:

Gonzalez, Michael A. ; Lebrigio, Rafael F. Acosta ; Van Booven, Derek...
Human Mutation.  34 (2013)  6 - p. 842-846 , 2013
Link: https://doi.org/10.1002/..
 
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7

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth di..:

McCorquodale III, Donald S. ; Montenegro, Gladys ; Peguero, Ainsley...
Journal of Neurology.  258 (2011)  7 - p. 1234-1239 , 2011
Link: https://doi.org/10.1007/..
 
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8

Exome sequencing allows for rapid gene identification in a ..:

Montenegro, Gladys ; Powell, Eric ; Huang, Jia...
Annals of Neurology.  69 (2011)  3 - p. 464-470 , 2011
Link: https://doi.org/10.1002/..
 
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9

Mutations in SLC25A46, encoding a UGO1-like protein, cause ..:

Abrams, Alexander J ; Hufnagel, Robert B ; Rebelo, Adriana...
qt2ft7n3zk.  , 2015
Link: https://escholarship.org..
 
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10

Mutations in the UGO1-like protein SLC25A46 cause an optic ..:

Abrams, Alexander J ; Hufnagel, Robert B ; Rebelo, Adriana...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520737/.  , 2015
Link: http://www.ncbi.nlm.nih...
 
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11

A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 d..:

Gonzalez, Michael A ; Feely, Shawna M ; Speziani, Fiorella...
https://doi.org/10.1093/brain/awu224.  , 2014
Link: https://doi.org/10.1093/..
 
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12

Loss of Association of REEP2 with Membranes Leads to Heredi..:

Esteves, Typhaine ; Durr, Alexandra ; Mundwiller, Emeline...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC.  , 2014
Link: http://www.ncbi.nlm.nih...
 
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13

Alteration of Ganglioside Biosynthesis Responsible for Comp..:

Boukhris, Amir ; Schule, Rebecca ; Loureiro, José L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3710753.  , 2013
Link: http://www.ncbi.nlm.nih...
 
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14

Mutations in phospholipase DDHD2 cause autosomal recessive ..:

Gonzalez, Michael ; Nampoothiri, Sheela ; Kornblum, Cornelia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC.  , 2013
Link: http://www.ncbi.nlm.nih...
 
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15

Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by ..:

Landouré, Guida ; Zhu, Peng‐Peng ; Lourenço, Charles M...
qt8cg7t7rm.  , 2013
Link: https://escholarship.org..
 
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