|
๐
|
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
40 auth.
N. BrunettiโPierri,
J. Berg,
F. Scaglia,
J. Belmont,
C. Bacino,
T. Sahoo,
S. Lalani,
B. Graham,
Brendan H. Lee,
M. Shinawi,
Joseph J Shen,
Sung-Hae L. Kang,
Amber Pursley,
T. Lotze,
G. Kennedy,
...
S. LANSKY-SHAFER,
C. Weaver,
E. Roeder,
T. Grebe,
G. Arnold,
Terry Hutchison,
T. Reimschisel,
Stephen Amato,
Michael T Geragthy,
J. Innis,
E. Obersztyn,
B. Nowakowska,
S. Rosengren,
P. Bader,
D. Grange,
S. Naqvi,
Adolfo D. Garnica,
S. Bernes,
C. Fong,
A. Summers,
W. D. Walters,
J. Lupski,
P. Stankiewicz,
S. Cheung,
Ankita Patel
|
9 |
2008 |
9
๐
|
|
๐
|
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
73 auth.
C. McDonald,
C. Campbell,
R. Torricelli,
R. Finkel,
K. Flanigan,
N. Goemans,
P. Heydemann,
A. Kaminska,
J. Kirschner,
F. Muntoni,
A. N. Osorio,
U. Schara,
T. Sejersen,
P. Shieh,
H. Sweeney,
...
H. Topaloฤlu,
M. Tulinius,
J. Vรญlchez,
T. Voit,
B. Wong,
G. Elfring,
H. Kroger,
Xiaohui Luo,
J. Mcintosh,
T. Ong,
P. Riebling,
Marcio Souza,
R. Spiegel,
S. Peltz,
E. Mercuri,
L. Alfano,
M. Eagle,
M. James,
L. Lowes,
A. Mayhew,
E. Mazzone,
Leslie Nelson,
K. Rose,
H. Abdel-Hamid,
S. Apkon,
R. Barohn,
E. Bertini,
C. Bloetzer,
Lausanne Canton de Vaud,
R. Butterfield,
B. Chabrol,
J. Chae,
D. Jongno-gu,
G. Comi,
B. Darras,
J. Dastgir,
I. Desguerre,
R. Escobar,
E. Finanger,
M. Guglieri,
I. Hughes,
S. Iannaccone,
K. Jones,
P. Karachunski,
M. Kudr,
T. Lotze,
J. Mah,
K. Mathews,
Y. Nevo,
J. Parsons,
Y. Pรฉrรฉon,
A. P. D. Q. Araรบjo,
J. Renfroe,
M. Resende,
Monique J. Ryan,
K. Selby,
G. Tennekoon,
G. Vita
|
8 |
2017 |
8
๐
|
|
๐
|
CNS aquaporin-4 autoimmunity in children
14 auth.
A. McKeon,
V. Lennon,
T. Lotze,
S. Tenenbaum,
J. Ness,
M. Rensel,
N. Kuntz,
J. Fryer,
H. Homburger,
J. Hunter,
...
B. Weinshenker,
K. Krecke,
C. Lucchinetti,
S. Pittock
|
8 |
2008 |
8
๐
|
|
๐
|
Role of MRI in the differentiation of ADEM from MS in children
7 auth.
D. Callen,
M. Shroff,
H. Branson,
David K.B. Li,
T. Lotze,
D. Stephens,
...
B. Banwell
|
7 |
2009 |
7
๐
|
|
๐ฆ
|
Spectrum of Pediatric Neuromyelitis Optica
T. Lotze,
J. L. Northrop,
G. Hutton,
B. Ross,
J. Schiffman,
J. Hunter
|
7 |
2008 |
7
๐ฆ
|
|
๐
|
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
48 auth.
T. Harel,
W. Yoon,
C. Garone,
Shen Gu,
Z. Coban-Akdemir,
M. Eldomery,
J. Posey,
S. Jhangiani,
J. Rosenfeld,
M. Cho,
S. Fox,
Marjorie A. Withers,
S. Brooks,
T. Chiang,
Lita Duraine,
...
Serkan Erdin,
Bo Yuan,
Yunru Shao,
Elie Moussallem,
C. Lamperti,
M. Donati,
Joshua D. Smith,
H. Mclaughlin,
C. Eng,
M. Walkiewicz,
F. Xia,
T. Pippucci,
P. Magini,
M. Seri,
M. Zeviani,
M. Hirano,
J. Hunter,
M. Srour,
S. Zanigni,
R. Lewis,
D. Muzny,
T. Lotze,
E. Boerwinkle,
R. Gibbs,
S. Hickey,
B. Graham,
Yaping Yang,
D. Buhas,
Donna M. Martin,
L. Potocki,
C. Graziano,
H. Bellen,
J. Lupski
|
7 |
2016 |
7
๐
|
|
๐
|
Neurologic Complications Associated With Influenza A in Children During the 2003โ2004 Influenza Season in Houston, Texas
7 auth.
S. Maricich,
J. Neul,
T. Lotze,
Andreea C Cazacu,
T. Uyeki,
G. Demmler,
...
G. Clark
|
7 |
2004 |
7
๐
|
|
๐
|
Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy
21 auth.
D. Escolar,
L. Hache,
P. Clemens,
A. Cnaan,
C. McDonald,
V. Viswanathan,
A. Kornberg,
Tulio E. Bertorini,
Y. Nevo,
T. Lotze,
...
A. Pestronk,
M. Ryan,
E. Monasterio,
J. Day,
A. Zimmerman,
A. Arrieta,
E. Henricson,
J. Mayhew,
J. Florence,
F. Hu,
A. Connolly
|
7 |
2011 |
7
๐
|
|
๐
|
Gut microbiota composition and relapse risk in pediatric MS: A pilot study
27 auth.
H. Tremlett,
D. Fadrosh,
Ali A. Faruqi,
Janace Hart,
S. Roalstad,
J. Graves,
S. Lynch,
E. Waubant,
G. Aaen,
A. Belman,
L. Benson,
C. Casper,
T. Chitnis,
M. Gorman,
Y. Harris,
...
L. Krupp,
T. Lotze,
Sabina Lulu,
J. Ness,
Cody J. Olsen,
Erik Roan,
Moses Rodriguez,
J. Rose,
T. Simmons,
J. Tillema,
W. Weber,
B. Weinstock-Guttman
|
7 |
2016 |
7
๐
|
|
๐
|
MRI in the diagnosis of pediatric multiple sclerosis
7 auth.
D. Callen,
M. Shroff,
H. Branson,
T. Lotze,
David K.B. Li,
D. Stephens,
...
B. Banwell
|
7 |
2009 |
7
๐
|
|
๐
|
Evidence for a causal relationship between low vitamin D, high BMI, and pediatric-onset MS
43 auth.
M. Gianfrancesco,
P. Stridh,
Brooke Rhead,
Xiaorong Shao,
Edison Xu,
J. Graves,
T. Chitnis,
Amy T. Waldman,
T. Lotze,
T. Schreiner,
A. Belman,
B. Greenberg,
B. Weinstock-Guttman,
G. Aaen,
J. Tillema,
...
Janace Hart,
S. Caillier,
J. Ness,
Y. Harris,
J. Rubin,
M. Candee,
L. Krupp,
M. Gorman,
L. Benson,
Moses Rodriguez,
S. Mar,
I. Kahn,
J. Rose,
S. Roalstad,
T. Casper,
L. Shen,
H. Quach,
D. Quach,
J. Hillert,
Maria Baฬaฬrnhielm,
Anna Hedstrom,
T. Olsson,
I. Kockum,
L. Alfredsson,
C. Metayer,
C. Schaefer,
L. Barcellos,
E. Waubant
|
7 |
2017 |
7
๐
|
