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X
Takata, Reinaldo I.
165  Ergebnisse:
Personensuche X
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1

Clinical, imaging, morphologic, and molecular features of X..:

Cotta, Ana ; Carvalho, Elmano ; da-Cunha-Junior, Antonio Lopes...
Journal of the Neurological Sciences.  415 (2020)  - p. 116977 , 2020
Link: https://doi.org/10.1016/..
 
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2

Modelling the pathogenesis of X-linked distal hereditary mo..:

Perez-Siles, Gonzalo ; Cutrupi, Anthony ; Ellis, Melina...
Disease Models & Mechanisms.  13 (2020)  2 - p. , 2020
Link: https://doi.org/10.1242/..
 
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3

Early‐onset coenzyme Q10 deficiency associated with ataxia ..:

Cotta, Ana ; Alston, Charlotte L. ; Baptista‐Junior, Sidney...
JIMD Reports.  54 (2020)  1 - p. 45-53 , 2020
Link: https://doi.org/10.1002/..
 
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4

LMNA-Related Muscular Dystrophy with Clinical Intrafamilial..:

Cotta, Ana ; Paim, Julia F. ; Carvalho, Elmano...
Journal of Molecular Neuroscience.  69 (2019)  4 - p. 623-627 , 2019
Link: https://doi.org/10.1007/..
 
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5

Analysis of mutations in EXT1 and EXT2 in Brazilian patient..:

Santos, Savana C. L. ; Rizzo, Isabela M. P. O. ; Takata, Reinaldo I....
Molecular Genetics & Genomic Medicine.  6 (2018)  3 - p. 382-392 , 2018
Link: https://doi.org/10.1002/..
 
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6

Central core myopathy with autophagy: Central Core With Aut..:

Cotta, Ana ; Paim, Julia F. ; Pavanello, Rita De C. M....
Muscle & Nerve.  56 (2017)  2 - p. E8-E9 , 2017
Link: https://doi.org/10.1002/..
 
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7

Characterizing the molecular phenotype of an Atp7aT985Icond..:

Perez-Siles, Gonzalo ; Grant, Adrienne ; Ellis, Melina...
Metallomics.  8 (2016)  9 - p. 981-992 , 2016
Link: https://doi.org/10.1039/..
 
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8

Muscle Phenotypic Variability in Limb Girdle Muscular Dystr..:

Paim, Julia F. ; Cotta, Ana ; Vargas, Antonio P....
Journal of Molecular Neuroscience.  50 (2013)  2 - p. 339-344 , 2013
Link: https://doi.org/10.1007/..
 
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9

Missense Mutations in the Copper Transporter Gene ATP7A Cau..:

Kennerson, Marina L. ; Nicholson, Garth A. ; Kaler, Stephen G....
The American Journal of Human Genetics.  86 (2010)  3 - p. 343-352 , 2010
Link: https://doi.org/10.1016/..
 
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10

Novel point mutations in the dystrophin gene:

Sitnik, Roberta ; Campiotto, Simone ; Vainzof, Mariz...
Human Mutation.  10 (1997)  3 - p. 217-222 , 1997
Link: https://doi.org/10.1002/..
 
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11

Novel point mutations in the dystrophin gene:

Sitnik, Roberta ; Campiotto, Simone ; Vainzof, Mariz...
Human Mutation.  10 (1997)  3 - p. 217-222 , 1997
Link: https://doi.org/10.1002/..
 
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12

Intrafamilial variability in dystrophin abundance correlate..:

Vainzof, Mariz ; Passos-Bueno, Maria Rita ; Takata, Reinaldo I...
Journal of the Neurological Sciences.  119 (1993)  1 - p. 38-42 , 1993
Link: https://doi.org/10.1016/..
 
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13

Severe nonspecific X‐linked mental retardation caused by a ..:

Passos‐Bueno, Maria Rita ; Byth, Barbara C. ; Rosenberg, Sergio...
American Journal of Medical Genetics.  46 (1993)  2 - p. 172-175 , 1993
Link: https://doi.org/10.1002/..
 
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14

Analysis of mutations in EXT1 and EXT2 in Brazilian patient..:

Santos, Savana C. L ; Rizzo, Isabela M. P. O ; Takata, Reinaldo I...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014457/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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15

Characterizing the molecular phenotype of an Atp7aT985I con..:

Perez-Siles, Gonzalo ; Grant, Adrienne ; Ellis, Melina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5586149/.  , 2016
Link: http://www.ncbi.nlm.nih...
 
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