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Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
43 auth.
Caroline Dias,
J. Punetha,
C. Zheng,
Neda Mazaheri,
A. Rad,
S. Efthymiou,
A. Petersen,
M. Dehghani,
D. Pehlivan,
J. Partlow,
J. Posey,
V. Salpietro,
A. Gezdirici,
R. A. Malamiri,
Nihal M. Al Menabawy,
...
L. Selim,
Mohammad Yahya Vahidi Mehrjardi,
S. Banu,
D. L. Polla,
E. Yang,
Jamileh Rezazadeh Varaghchi,
Tadahiro Mitani,
E. van Beusekom,
Maryam Najafi,
A. Sedaghat,
Jennifer Keller-Ramey,
Leslie Durham,
Z. Coban-Akdemir,
E. Karaca,
Valeria Orlova,
Lieke Schaeken,
A. Sherafat,
S. Jhangiani,
Valentina Stanley,
G. Shariati,
H. Galehdari,
J. Gleeson,
C. Walsh,
J. Lupski,
E. Seiradake,
H. Houlden,
H. van Bokhoven,
R. Maroofian
|
5 |
2019 |
5
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
106 auth.
M. Wiessner,
R. Maroofian,
Meng-Yuan Ni,
A. Pedroni,
Juliane S. Müller,
R. Stucka,
C. Beetz,
S. Efthymiou,
F. Santorelli,
Ahmed Alfares,
Changlian Zhu,
Anna Uhrová Mészárosová,
E. Alehabib,
S. Bakhtiari,
A. Janecke,
...
M. G. Otero,
Jin Yun Helen Chen,
J. Peterson,
T. Strom,
P. de Jonghe,
T. Deconinck,
W. De Ridder,
Jonathan De Winter,
R. Pasquariello,
I. Ricca,
M. Alfadhel,
B. P. van de Warrenburg,
R. Portier,
C. Bergmann,
S. Ghasemi Firouzabadi,
S. Jin,
K. Bilguvar,
S. Hamed,
Mohammed Abdelhameed,
Nourelhoda A. Haridy,
S. Maqbool,
F. Rahman,
Najwa Anwar,
J. Carmichael,
A. Pagnamenta,
N. Wood,
F. Tran Mau-Them,
T. Haack,
M. Di Rocco,
I. Ceccherini,
M. Iacomino,
F. Zara,
V. Salpietro,
Marcello Scala,
M. Rusmini,
Yiran Xu,
Yinghong Wang,
Yasuhiro Suzuki,
K. Koh,
Haitian Nan,
H. Ishiura,
S. Tsuji,
L. Lambert,
E. Schmitt,
E. Lacaze,
H. Küpper,
David Dredge,
Cara M Skraban,
A. Goldstein,
M. Willis,
Katheryn L. Grand,
J. Graham,
R. Lewis,
F. Millan,
Ö. Duman,
N. Dündar,
G. Uyanik,
L. Schöls,
P. Nürnberg,
G. Nürnberg,
Andrea Catala Bordes,
P. Seeman,
M. Kuchař,
H. Darvish,
A. Rebelo,
Filipa Bouçanova,
Jean‐Jacques Médard,
R. Chrast,
M. Auer-Grumbach,
F. Alkuraya,
H. Shamseldin,
Saeed Al Tala,
Jamileh Rezazadeh Varaghchi,
Maryam Najafi,
S. Deschner,
D. Gläser,
Wolfgang Hüttel,
M. Kruer,
E. Kamsteeg,
Y. Takiyama,
S. Züchner,
J. Baets,
M. Synofzik,
R. Schüle,
R. Horvath,
H. Houlden,
Luca Bartesaghi,
Hwei-Jen Lee,
Konstantinos Ampatzis,
T. Pierson,
J. Senderek
|
4 |
2021 |
4
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|
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Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis
17 auth.
Somayyeh Hashemian,
P. Eshraghi,
N. Dilaver,
H. Galehdari,
B. Shalbafan,
R. Vakili,
N. Ghaemi,
N. Ahangari,
Jamileh Rezazadeh Varaghchi,
Jawaher Zeighami,
...
A. Sedaghat,
M. Aminzadeh,
M. Hamid,
A. Saberi,
F. Ashtari,
Ehsan Ghayoor Karimiani,
G. Shariati
|
2 |
2019 |
2
🐜
|
|
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Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
106 auth.
M. Wiessner,
R. Maroofian,
Meng-Yuan Ni,
A. Pedroni,
Juliane S. Müller,
R. Stucka,
C. Beetz,
S. Efthymiou,
F. Santorelli,
Ahmed Alfares,
Changlian Zhu,
Anna Uhrová Mészárosová,
E. Alehabib,
S. Bakhtiari,
A. Janecke,
...
M. G. Otero,
Jin Yun Helen Chen,
J. Peterson,
T. Strom,
P. de Jonghe,
T. Deconinck,
W. De Ridder,
Jonathan De Winter,
R. Pasquariello,
I. Ricca,
M. Alfadhel,
B. P. van de Warrenburg,
R. Portier,
C. Bergmann,
S. Ghasemi Firouzabadi,
Shengpeng Jin,
K. Bilguvar,
Sherif Hamed,
Mohammed Abdelhameed,
Nourelhoda A. Haridy,
S. Maqbool,
F. Rahman,
Najwa Anwar,
J. Carmichael,
A. Pagnamenta,
N. Wood,
F. Tran Mau-Them,
T. Haack,
M. Di Rocco,
I. Ceccherini,
M. Iacomino,
F. Zara,
V. Salpietro,
Marcello Scala,
M. Rusmini,
Yiran Xu,
Yinghong Wang,
Yasuhiro Suzuki,
K. Koh,
Haitian Nan,
H. Ishiura,
S. Tsuji,
L. Lambert,
E. Schmitt,
E. Lacaze,
H. Küpper,
David Dredge,
Cara M Skraban,
A. Goldstein,
M. J. Willis,
Katheryn L. Grand,
J. M. Graham,
R. Lewis,
F. Millan,
Ö. Duman,
Nihal Olgac Dundar,
Gökhan Uyanık,
L. Schöls,
P. Nürnberg,
G. Nürnberg,
Andrea Català-Bordes,
P. Seeman,
Martin Kuchar,
H. Darvish,
A. Rebelo,
Filipa Bouçanova,
Jean‐Jacques Médard,
R. Chrast,
M. Auer-Grumbach,
F. Alkuraya,
H. Shamseldin,
Saeed Al Tala,
Jamileh Rezazadeh Varaghchi,
Maryam Najafi,
S. Deschner,
D. Gläser,
Wolfgang Hüttel,
M. Kruer,
E. Kamsteeg,
Y. Takiyama,
S. Züchner,
J. Baets,
M. Synofzik,
R. Schüle,
R. Horvath,
H. Houlden,
Luca Bartesaghi,
Hwei-Jen Lee,
Konstantinos Ampatzis,
T. Pierson,
J. Senderek
|
1 |
2021 |
1
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|
