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Motta, Marialetizia
38  Ergebnisse:
Personensuche X
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1

RAF1 gene fusions are recurrent driver events in infantile ..:

Motta, Marialetizia ; Barresi, Sabina ; Pizzi, Simone...
The Journal of Pathology.  263 (2024)  2 - p. 166-177 , 2024
Link: https://doi.org/10.1002/..
 
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2

Bi-allelic loss-of-function variants in TMEM147 cause moder..:

Thomas, Quentin ; Motta, Marialetizia ; Gautier, Thierry...
The American Journal of Human Genetics.  109 (2022)  10 - p. 1909-1922 , 2022
Link: https://doi.org/10.1016/..
 
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3

Expanding the molecular spectrum of pathogenicSHOC2variants..:

Motta, Marialetizia ; Solman, Maja ; Bonnard, Adeline A...
Human Molecular Genetics.  31 (2022)  16 - p. 2766-2778 , 2022
Link: https://doi.org/10.1093/..
 
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4

SHP2's gain‐of‐function in Werner syndrome causes childhood..:

Priolo, Manuela ; Palermo, Valentina ; Aiello, Francesca...
Clinical Genetics.  102 (2022)  1 - p. 12-21 , 2022
Link: https://doi.org/10.1111/..
 
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5

Biallelic mutations in RNF220 cause laminopathies featuring..:

Sferra, Antonella ; Fortugno, Paola ; Motta, Marialetizia...
Brain.  144 (2021)  10 - p. 3020-3035 , 2021
Link: https://doi.org/10.1093/..
 
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6

Clinical variability of neurofibromatosis 1: A modifying ro..:

D'Amico, Alessandra ; Rosano, Carmen ; Pannone, Luca...
Clinical Genetics.  100 (2021)  5 - p. 563-572 , 2021
Link: https://doi.org/10.1111/..
 
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7

Clinical and functional characterization of a novel RASopat..:

Motta, Marialetizia ; Giancotti, Antonella ; Mastromoro, Gioia...
Human Mutation.  , 2019
Link: https://doi.org/10.1002/..
 
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8

Activating MRAS mutations cause Noonan syndrome associated ..:

Motta, Marialetizia ; Sagi-Dain, Lena ; Krumbach, Oliver H F...
Human Molecular Genetics.  29 (2019)  11 - p. 1772-1783 , 2019
Link: https://doi.org/10.1093/..
 
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9

Dominant Noonan syndrome-causing LZTR1 mutations specifical..:

Motta, Marialetizia ; Fidan, Miray ; Bellacchio, Emanuele...
Human Molecular Genetics.  28 (2018)  6 - p. 1007-1022 , 2018
Link: https://doi.org/10.1093/..
 
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10

AberrantHRAStranscript processing underlies a distinctive p..:

Pantaleoni, Francesca ; Lev, Dorit ; Cirstea, Ion C....
Human Mutation.  38 (2017)  7 - p. 798-804 , 2017
Link: https://doi.org/10.1002/..
 
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11

SHOC2 subcellular shuttling requires the KEKE motif-rich re..:

Motta, Marialetizia ; Chillemi, Giovanni ; Fodale, Valentina...
Human Molecular Genetics.  25 (2016)  17 - p. 3824-3835 , 2016
Link: https://doi.org/10.1093/..
 
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12

BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autopha..:

Tatti, Massimo ; Motta, Marialetizia ; Scarpa, Susanna...
Human Molecular Genetics.  24 (2015)  15 - p. 4198-4211 , 2015
Link: https://doi.org/10.1093/..
 
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13

Autophagic Dysfunction in Gaucher Disease and its Rescue by..:

, In: Autophagy: Cancer, Other Pathologies, Inflammation, Immunity, Infection, and Aging,
Motta, Marialetizia ; Tatti, Massimo ; Salvioli, Rosa - p. 131-146 , 2014
Link: https://doi.org/10.1016/..
 
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14

Contributors:

, In: Autophagy: Cancer, Other Pathologies, Inflammation, Immunity, Infection, and Aging,
Apostolova, Nadezda ; Aryal, Baikuntha ; Berchem, Guy... - p. xvii-xix , 2014
Link: https://doi.org/10.1016/..
 
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15

Gaucher disease due to saposin C deficiency is an inherited..:

Motta, Marialetizia ; Camerini, Serena ; Tatti, Massimo...
Human Molecular Genetics.  23 (2014)  21 - p. 5814-5826 , 2014
Link: https://doi.org/10.1093/..
 
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