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Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
22 auth.
Michael G. Ricos,
B. Hodgson,
T. Pippucci,
A. Saidin,
Yeh Sze Ong,
S. Heron,
L. Licchetta,
F. Bisulli,
Marta A. Bayly,
James Hughes,
...
S. Baldassari,
Flavia Palombo,
M. Santucci,
S. Meletti,
S. Berkovic,
G. Rubboli,
Paul Q. Thomas,
I. Scheffer,
P. Tinuper,
J. Geoghegan,
A. Schreiber,
L. Dibbens
|
7 |
2015 |
7
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|
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Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
54 auth.
S. L. Stenton,
N. L. Sheremet,
C. Catarino,
N. Andreeva,
Zahra Assouline,
P. Barboni,
O. Barel,
Riccardo Berutti,
I. Bychkov,
L. Caporali,
M. Capristo,
M. Carbonelli,
M. Cascavilla,
P. Charbel Issa,
P. Freisinger,
...
S. Gerber,
D. Ghezzi,
E. Graf,
J. Heidler,
M. Hempel,
E. Héon,
Y. S. Itkis,
Elisheva Javasky,
J. Kaplan,
R. Kopajtich,
C. Kornblum,
Réka Kovács-Nagy,
T. Krylova,
W. Kunz,
C. La Morgia,
C. Lamperti,
C. Ludwig,
P. Malacarne,
A. Maresca,
J. Mayr,
Jana Meisterknecht,
T. A. Nevinitsyna,
Flavia Palombo,
B. Pode-Shakked,
M. S. Shmelkova,
T. Strom,
F. Tagliavini,
M. Tzadok,
A. T. van der Ven,
C. Vignal-Clermont,
M. Wagner,
E. Zakharova,
N. V. Zhorzholadze,
J. Rozet,
V. Carelli,
P. Tsygankova,
T. Klopstock,
I. Wittig,
H. Prokisch
|
6 |
2021 |
6
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|
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H3M2: detection of runs of homozygosity from whole-exome sequencing data
11 auth.
A. Magi,
Lorenzo Tattini,
Flavia Palombo,
M. Benelli,
Alessandro Gialluisi,
B. Giusti,
...
R. Abbate,
M. Seri,
G. Gensini,
G. Romeo,
T. Pippucci
|
6 |
2014 |
6
🐜
|
|
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Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia
22 auth.
Federica Melazzini,
Flavia Palombo,
A. Balduini,
D. De Rocco,
C. Marconi,
P. Noris,
C. Gnan,
T. Pippucci,
V. Bozzi,
M. Faleschini,
...
S. Barozzi,
M. Doubek,
C. D. Di Buduo,
K. S. Kozubík,
L. Radová,
G. Loffredo,
Š. Pospíšilová,
C. Alfano,
M. Seri,
C. Balduini,
A. Pecci,
A. Savoia
|
6 |
2016 |
6
🐜
|
|
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A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy
11 auth.
T. Pippucci,
A. Parmeggiani,
Flavia Palombo,
A. Maresca,
A. Angius,
L. Crisponi,
...
F. Cucca,
R. Liguori,
M. Valentino,
M. Seri,
V. Carelli
|
6 |
2013 |
6
🐜
|
|
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SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
47 auth.
Valentina Del Dotto,
Farid Ullah,
Ivano Di Meo,
P. Magini,
Mirjana Gusic,
A. Maresca,
L. Caporali,
Flavia Palombo,
F. Tagliavini,
E. Baugh,
B. Macao,
Z. Szilágyi,
Camille Peron,
M. Gustafson,
Kamal Khan,
...
C. La Morgia,
P. Barboni,
M. Carbonelli,
M. Valentino,
R. Liguori,
V. Shashi,
J. Sullivan,
S. Nagaraj,
M. El-Dairi,
A. Iannaccone,
I. Cutcutache,
E. Bertini,
R. Carrozzo,
F. Emma,
F. Diomedi-Camassei,
C. Zanna,
Martin Armstrong,
M. Page,
N. Stong,
S. Boesch,
R. Kopajtich,
S. Wortmann,
W. Sperl,
E. Davis,
W. Copeland,
M. Seri,
M. Falkenberg,
H. Prokisch,
N. Katsanis,
V. Tiranti,
T. Pippucci,
V. Carelli
|
6 |
2019 |
6
🐜
|
|
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Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy
20 auth.
T. Pippucci,
A. Maresca,
P. Magini,
G. Cenacchi,
V. Donadio,
Flavia Palombo,
V. Papa,
A. Incensi,
G. Gasparre,
M. Valentino,
...
Carmela Preziuso,
A. Pisano,
M. Ragno,
R. Liguori,
C. Giordano,
C. Tonon,
R. Lodi,
A. Parmeggiani,
V. Carelli,
M. Seri
|
5 |
2015 |
5
🐜
|
|
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
52 auth.
P. Magini,
Daphne J. Smits,
Laura V. Vandervore,
R. Schot,
M. Columbaro,
E. Kasteleijn,
M. van der Ent,
Flavia Palombo,
M. Lequin,
M. Dremmen,
M. D. de Wit,
M. Severino,
M. T. Divizia,
P. Striano,
Natalia Ordoñez-Herrera,
...
Amal M Alhashem,
A. Al Fares,
M. al Ghamdi,
A. Rolfs,
P. Bauer,
J. Demmers,
F. Verheijen,
M. Wilke,
M. V. van Slegtenhorst,
P. J. van der Spek,
M. Seri,
A. Jansen,
R. Stottmann,
R. Hufnagel,
R. Hopkin,
D. Aljeaid,
W. Wiszniewski,
Paweł Gawliński,
M. Laure-Kamionowska,
F. Alkuraya,
Hana Akleh,
Valentina Stanley,
D. Musaev,
J. Gleeson,
M. Zaki,
N. Brunetti‐Pierri,
G. Cappuccio,
Bella Davidov,
L. Basel-Salmon,
L. Bazak,
Noa Shahar,
Aida M Bertoli Avella,
G. Mirzaa,
W. Dobyns,
T. Pippucci,
M. Fornerod,
G. Mancini
|
5 |
2019 |
5
🐜
|
|
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|
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts
22 auth.
Miroslav P. Milev,
C. Graziano,
D. Karall,
Willemijn F E Kuper,
Noraldin Al-Deri,
D. Cordelli,
T. Haack,
K. Danhauser,
A. Iuso,
Flavia Palombo,
...
T. Pippucci,
H. Prokisch,
D. Saint-Dic,
M. Seri,
Daniela Stanga,
G. Cenacchi,
K. V. van Gassen,
J. Zschocke,
C. Fauth,
J. Mayr,
M. Sacher,
P. V. van Hasselt
|
5 |
2018 |
5
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