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🐜
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
136 auth.
Y. Crow,
D. Chase,
Johanna Lowenstein Schmidt,
M. Szynkiewicz,
Gabriella M. A. Forte,
H. Gornall,
A. Oojageer,
Beverley H Anderson,
A. Pizzino,
G. Helman,
M. Abdel-Hamid,
G. Abdel-Salam,
S. Ackroyd,
A. Aeby,
G. Agosta,
...
Catherine Albin,
Stavit Allon-Shalev,
Montse Arellano,
G. Ariaudo,
V. Aswani,
R. Babul‐Hirji,
E. Baildam,
N. Bahi-Buisson,
Kathryn M Bailey,
C. Barnerias,
M. Barth,
R. Battini,
M. Beresford,
G. Bernard,
M. Bianchi,
T. Billette de Villemeur,
E. Blair,
M. Bloom,
A. Burlina,
Maria Luisa Carpanelli,
D. Carvalho,
M. Castro‐Gago,
A. Cavallini,
Cristina Cereda,
K. Chandler,
D. Chitayat,
A. Collins,
C. Sierra Córcoles,
N.J.V. Cordeiro,
G. Crichiutti,
Lyvia Dabydeen,
R. Dale,
S. D'Arrigo,
C. de Goede,
Corinne de Laet,
Liesbeth De Waele,
I. Denzler,
I. Desguerre,
K. Devriendt,
M. Di Rocco,
M. Fahey,
E. Fazzi,
C. Ferrie,
António Figueiredo,
B. Gener,
C. Goizet,
N. R. Gowrinathan,
K. Gowrishankar,
D. Hanrahan,
B. Isidor,
B. Kara,
Nasaim Khan,
M. King,
E. Kirk,
Ram Kumar,
L. Lagae,
P. Landrieu,
H. Lauffer,
V. Laugel,
R. Piana,
M. Lim,
Jean-Pierre Lin,
T. Linnankivi,
M. Mackay,
Daphna Marom,
Charles Marques LourenḈo,
S. McKee,
I. Moroni,
J. Morton,
M. Moutard,
Kevin Murray,
R. Nabbout,
S. Nampoothiri,
N. Núñez-Enamorado,
P. Oades,
I. Olivieri,
J. Ostergaard,
B. Pérez-Dueñas,
J. Prendiville,
V. Ramesh,
M. Rasmussen,
L. Régal,
F. Ricci,
M. Rio,
D. Rodriguez,
A. Roubertie,
E. Salvatici,
K. Segers,
Gyanranjan P. Sinha,
D. Soler,
R. Spiegel,
T. Stödberg,
R. Straussberg,
K. Swoboda,
M. Suri,
U. Tacke,
T. Tan,
J. te Water Naudé,
Keng Wee Teik,
Maya Mary Thomas,
M. Till,
D. Tonduti,
Enza Maria Valente,
Rudy Noel Van Coster,
M. S. van der Knaap,
G. Vassallo,
R. Vijzelaar,
J. Vogt,
G. Wallace,
E. Wassmer,
Hannah J. Webb,
W. Whitehouse,
Robyn N. Whitney,
M. Zaki,
S. Zuberi,
J. Livingston,
F. Rozenberg,
P. Lebon,
A. Vanderver,
S. Orcesi,
G. Rice
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8 |
2015 |
8
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🐜
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CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis
29 auth.
V. Fridman,
B. Bundy,
M. Reilly,
D. Pareyson,
Chelsea J. Bacon,
J. Burns,
J. Day,
S. Feely,
R. Finkel,
T. Grider,
Callyn A. Kirk,
D. Herrmann,
M. Laurá,
Jun Yu Li,
T. Lloyd,
...
C. Sumner,
F. Muntoni,
G. Piscosquito,
S. Ramchandren,
S. Ramchandren,
R. Shy,
C. Siskind,
S. Yum,
I. Moroni,
E. Pagliano,
S. Züchner,
S. Scherer,
M. Shy,
M. Shy
|
8 |
2014 |
8
🐜
|
|
🐜
|
Clinical and molecular findings in children with complex I deficiency.
12 auth.
M. Bugiani,
F. Invernizzi,
Simona Alberio,
Egill Briem,
E. Lamantea,
F. Carrara,
...
I. Moroni,
L. Farina,
M. Spada,
M. Donati,
G. Uziel,
M. Zeviani
|
8 |
2004 |
8
🐜
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|
🐜
|
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
19 auth.
J. Mayr,
T. Haack,
E. Graf,
F. Zimmermann,
T. Wieland,
Birgit Haberberger,
A. Superti-Furga,
J. Kirschner,
B. Steinmann,
M. Baumgartner,
...
I. Moroni,
E. Lamantea,
M. Zeviani,
R. Rodenburg,
J. Smeitink,
T. Strom,
T. Meitinger,
W. Sperl,
H. Prokisch
|
7 |
2012 |
7
🐜
|
|
🐜
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Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
28 auth.
M. Guglieri,
F. Magri,
M. D'Angelo,
A. Prelle,
L. Morandi,
C. Rodolico,
R. Cagliani,
M. Mora,
F. Fortunato,
A. Bordoni,
R. del Bo,
S. Ghezzi,
S. Pagliarani,
S. Lucchiari,
S. Salani,
...
C. Zecca,
C. Lamperti,
D. Ronchi,
M. Aguennouz,
P. Ciscato,
C. Di Blasi,
A. Ruggieri,
I. Moroni,
A. Turconi,
A. Toscano,
M. Moggio,
N. Bresolin,
G. Comi
|
7 |
2008 |
7
🐜
|
|
🐜
|
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
22 auth.
M. C. Manzini,
Dimira E. Tambunan,
R. Hill,
T. Yu,
T. Maynard,
E. Heinzen,
K. Shianna,
C. Stevens,
J. Partlow,
B. Barry,
...
Jacqueline Rodriguez,
Vandana A Gupta,
A. Al-Qudah,
W. Eyaid,
J. Friedman,
M. Salih,
Robin Clark,
I. Moroni,
M. Mora,
A. Beggs,
S. Gabriel,
C. Walsh
|
7 |
2012 |
7
🐜
|
|
🐜
|
Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation
31 auth.
M. Mancuso,
D. Orsucci,
C. Angelini,
E. Bertini,
V. Carelli,
G. Comi,
C. Minetti,
M. Moggio,
T. Mongini,
S. Servidei,
P. Tonin,
A. Toscano,
G. Uziel,
C. Bruno,
E. Caldarazzo Ienco,
...
M. Filosto,
C. Lamperti,
D. Martinelli,
I. Moroni,
O. Musumeci,
E. Pegoraro,
D. Ronchi,
F. Santorelli,
D. Sauchelli,
M. Scarpelli,
M. Sciacco,
M. Spinazzi,
M. Valentino,
L. Vercelli,
M. Zeviani,
G. Siciliano
|
7 |
2013 |
7
🐜
|
|
🐜
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Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families
7 auth.
G. Uziel,
I. Moroni,
E. Lamantea,
G. Fratta,
E. Ciceri,
F. Carrara,
...
M. Zeviani
|
7 |
1997 |
7
🐜
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|
🐜
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Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
17 auth.
V. Pensato,
B. Castellotti,
C. Gellera,
D. Pareyson,
C. Ciano,
L. Nanetti,
E. Salsano,
G. Piscosquito,
Elisa Sarto,
M. Eoli,
...
I. Moroni,
P. Soliveri,
E. Lamperti,
L. Chiapparini,
D. D. Di Bella,
F. Taroni,
C. Mariotti
|
7 |
2014 |
7
🐜
|
|
🐜
|
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
31 auth.
M. Mancuso,
D. Orsucci,
C. Angelini,
E. Bertini,
V. Carelli,
G. Comi,
A. Donati,
C. Minetti,
M. Moggio,
T. Mongini,
S. Servidei,
P. Tonin,
A. Toscano,
G. Uziel,
C. Bruno,
...
E. C. Ienco,
M. Filosto,
C. Lamperti,
M. Catteruccia,
I. Moroni,
O. Musumeci,
E. Pegoraro,
D. Ronchi,
F. Santorelli,
D. Sauchelli,
M. Scarpelli,
M. Sciacco,
M. Valentino,
L. Vercelli,
M. Zeviani,
G. Siciliano
|
7 |
2014 |
7
🐜
|
|
🐜
|
Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial
17 auth.
N. Bresolin,
C. Doriguzzi,
C. Ponzetto,
C. Angelini,
I. Moroni,
E. Castelli,
E. Cossutta,
A. Binda,
A. Gallanti,
S. Gabellini,
...
G. Piccolo,
A. Martinuzzi,
E. Ciafaloni,
E. Arnaudo,
L. Liciardello,
A. Carenzi,
G. Scarlato
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6 |
1990 |
6
🐜
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