|
π¦
|
Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
52 auth.
G. Novarino,
A. Fenstermaker,
M. Zaki,
Matan Hofree,
J. Silhavy,
A. Heiberg,
Mostafa Abdellateef,
BaΕak Rosti,
Eric Scott,
L. Mansour,
A. Masri,
H. Kayserili,
J. Al-Aama,
G. Abdel-Salam,
Ariana Karminejad,
...
Majdi Kara,
B. Kara,
Bita Bozorgmehri,
T. Ben-Omran,
F. Mojahedi,
I. Mahmoud,
N. Bouslam,
A. Bouhouche,
A. Benomar,
S. Hanein,
L. Raymond,
S. Forlani,
M. Mascaro,
L. Selim,
N. Shehata,
N. Al-Allawi,
P. S. Bindu,
M. Azam,
M. Gunel,
A. ΓaΔlayan,
K. Bilguvar,
A. Tolun,
M. Issa,
J. Schroth,
E. Spencer,
R. O. Rosti,
N. Akizu,
K. Vaux,
Anide Johansen,
Alice A. Koh,
H. Megahed,
A. Durr,
A. Brice,
G. Stevanin,
S. Gabriel,
T. Ideker,
J. Gleeson
|
8 |
2014 |
8
π¦
|
|
π’
|
Neurodevelopmental Disorders: From Genetics to Functional Pathways
I. Parenti,
Luis G. Rabaneda,
Hanna Schoen,
G. Novarino
|
8 |
2020 |
8
π’
|
|
π¦
|
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
22 auth.
G. Novarino,
Paul El-Fishawy,
H. Kayserili,
N. Meguid,
Eric M. Scott,
J. Schroth,
J. Silhavy,
Majdi Kara,
R. Khalil,
T. Ben-Omran,
...
A. Ercan-Sencicek,
A. Hashish,
Stephan J Sanders,
Abha R. Gupta,
Hebatalla S Hashem,
D. Matern,
S. Gabriel,
L. Sweetman,
Y. Rahimi,
Robert A. Harris,
M. State,
J. Gleeson
|
8 |
2012 |
8
π¦
|
|
π
|
Exome Sequencing Can Improve Diagnosis and Alter Patient Management
29 auth.
Tracy Dixon-Salazar,
J. Silhavy,
Nitin Udpa,
J. Schroth,
S. Bielas,
A. Schaffer,
Jesus Olvera,
V. Bafna,
M. Zaki,
G. Abdel-Salam,
L. Mansour,
L. Selim,
Sawsan Abdel-Hadi,
N. Marzouki,
T. Ben-Omran,
...
Nouriya A Al-Saana,
F. M. Sonmez,
F. Celep,
M. Azam,
K. J. Hill,
Adrienne Collazo,
A. Fenstermaker,
G. Novarino,
N. Akizu,
K. Garimella,
C. Sougnez,
C. Russ,
S. Gabriel,
J. Gleeson
|
8 |
2012 |
8
π
|
|
π’
|
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder
24 auth.
D. Tarlungeanu,
Elena Deliu,
Christoph P. Dotter,
Majdi Kara,
P. C. Janiesch,
M. Scalise,
M. Galluccio,
Mateja Tesulov,
Emanuela Morelli,
F. M. Sonmez,
...
K. Bilguvar,
Ryuichi Ohgaki,
Y. Kanai,
Anide Johansen,
Seham Esharif,
T. Ben-Omran,
M. Topçu,
A. Schlessinger,
C. Indiveri,
Kent E Duncan,
A. ΓaΔlayan,
M. Gunel,
J. Gleeson,
G. Novarino
|
8 |
2016 |
8
π’
|
|
π¦
|
Endosomal Chloride-Proton Exchange Rather Than Chloride Conductance Is Crucial for Renal Endocytosis
G. Novarino,
S. Weinert,
Gesa Rickheit,
T. Jentsch
|
7 |
2010 |
7
π¦
|
|
π¦
|
Modeling Human Disease in Humans: The Ciliopathies
G. Novarino,
N. Akizu,
J. Gleeson
|
7 |
2011 |
7
π¦
|
|
π¦
|
Involvement of the Intracellular Ion Channel CLIC1 in Microglia-Mediated Ξ²-Amyloid-Induced Neurotoxicity
12 auth.
G. Novarino,
C. Fabrizi,
R. Tonini,
M. Denti,
F. Malchiodi-Albedi,
Giuliana Lauro,
...
B. Sacchetti,
S. Paradisi,
A. Ferroni,
P. Curmi,
S. Breit,
M. Mazzanti
|
6 |
2004 |
6
π¦
|
|
π
|
Off-Target Effect of doublecortin Family shRNA on Neuronal Migration Associated with Endogenous MicroRNA Dysregulation
7 auth.
S. Baek,
G. Kerjan,
S. Bielas,
J. Lee,
A. Fenstermaker,
G. Novarino,
...
J. Gleeson
|
6 |
2014 |
6
π
|
|
π
|
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
26 auth.
A. Kuechler,
A. Zink,
T. Wieland,
H. LΓΌdecke,
K. Cremer,
L. Salviati,
P. Magini,
Kimia Najafi,
C. Zweier,
J. Czeschik,
S. Aretz,
S. Endele,
F. Tamburrino,
C. Pinato,
M. Clementi,
...
Jasmin Gundlach,
Carina Maylahn,
L. Mazzanti,
E. Wohlleber,
T. Schwarzmayr,
R. Kariminejad,
A. Schlessinger,
D. Wieczorek,
T. Strom,
G. Novarino,
H. Engels
|
6 |
2014 |
6
π
|
|
π’
|
Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition
12 auth.
Elena Deliu,
N. Arecco,
J. Morandell,
Christoph P. Dotter,
Ximena Contreras,
Charles Girardot,
...
Eva-Lotta KΓ€sper,
A. Kozlova,
Kasumi Kishi,
Ilaria Chiaradia,
K. Noh,
G. Novarino
|
6 |
2018 |
6
π’
|
