|
🐜
|
Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: a case series, characterisation of the antigen, and analysis of the effects of antibodies
19 auth.
Mar Petit-Pedrol,
T. Armangué,
Xiaoyu Peng,
L. Bataller,
T. Cellucci,
Rebecca Davis,
Lindsey Mccracken,
E. Martínez-Hernandez,
W. Mason,
M. Kruer,
...
David G. Ritacco,
W. Grisold,
B. Meaney,
C. Alcalá,
P. Sillevis-Smitt,
M. Titulaer,
R. Balice-Gordon,
F. Graus,
J. Dalmau
|
9 |
2014 |
9
🐜
|
|
🐜
|
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
33 auth.
T. Haack,
P. Hogarth,
M. Kruer,
A. Gregory,
T. Wieland,
T. Schwarzmayr,
E. Graf,
L. Sanford,
E. Meyer,
E. Kara,
S. Cuno,
S. Harik,
Vasuki H Dandu,
N. Nardocci,
G. Zorzi,
...
T. Dunaway,
M. Tarnopolsky,
Steven A. Skinner,
S. Frucht,
Era K. Hanspal,
C. Schrander‐Stumpel,
D. Heron,
C. Mignot,
B. Garavaglia,
K. Bhatia,
J. Hardy,
T. Strom,
N. Boddaert,
H. Houlden,
M. Kurian,
T. Meitinger,
H. Prokisch,
S. Hayflick
|
8 |
2012 |
8
🐜
|
|
🦁
|
Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation
10 auth.
M. Kruer,
N. Boddaert,
S. Schneider,
H. Houlden,
K. Bhatia,
A. Gregory,
...
James C. Anderson,
W. Rooney,
P. Hogarth,
S. Hayflick
|
7 |
2012 |
7
🦁
|
|
🐜
|
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
85 auth.
L. Snijders Blok,
E. Madsen,
J. Juusola,
C. Gilissen,
D. Baralle,
Margot R. F. Reijnders,
H. Venselaar,
C. Helsmoortel,
M. Cho,
A. Hoischen,
L. Vissers,
T. Koemans,
W. Wissink-Lindhout,
Evan E. Eichler,
C. Romano,
...
H. Van Esch,
C. Stumpel,
M. Vreeburg,
E. Smeets,
K. Oberndorff,
B. V. van Bon,
M. Shaw,
J. Gécz,
E. Haan,
M. Bienek,
C. Jensen,
B. Loeys,
Anke Van Dijck,
A. M. Innes,
Hilary Racher,
S. Vermeer,
N. Di Donato,
A. Rump,
K. Tatton-Brown,
M. Parker,
A. Henderson,
S. Lynch,
A. Fryer,
A. Ross,
P. Vasudevan,
U. Kini,
R. Newbury-Ecob,
K. Chandler,
Alison M. Male,
Sybe Dijkstra,
J. Schieving,
J. Giltay,
K. V. van Gassen,
J. Schuurs-Hoeijmakers,
P. L. Tan,
Igor Pediaditakis,
S. Haas,
K. Retterer,
P. Reed,
K. Monaghan,
Eden V. Haverfield,
M. Natowicz,
A. Myers,
M. Kruer,
Q. Stein,
K. Strauss,
Karlla W Brigatti,
Katherine Keating,
Barbara K Burton,
Katherine H. Kim,
J. Charrow,
Jennifer Norman,
A. Foster-Barber,
A. Kline,
Amy Kimball,
E. Zackai,
M. Harr,
Joyce Fox,
J. McLaughlin,
K. Lindstrom,
K. Haude,
K. V. van Roozendaal,
H. Brunner,
Wendy K. Chung,
R. Kooy,
R. Pfundt,
V. Kalscheuer,
S. Mehta,
N. Katsanis,
T. Kleefstra
|
7 |
2015 |
7
🐜
|
|
🐜
|
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
35 auth.
S. Parikh,
A. Goldstein,
A. Karaa,
M. Koenig,
I. Anselm,
C. Brunel-Guitton,
J. Christodoulou,
B. Cohen,
D. Dimmock,
G. Enns,
Marni J. Falk,
A. Feigenbaum,
R. Frye,
J. Ganesh,
D. Griesemer,
...
R. Haas,
R. Horvath,
M. Korson,
M. Kruer,
M. Mancuso,
Shana E. McCormack,
M. Raboisson,
T. Reimschisel,
R. Salvarinova,
R. Saneto,
F. Scaglia,
J. Shoffner,
P. Stacpoole,
C. Sue,
M. Tarnopolsky,
C. Karnebeek,
L. Wolfe,
Z. Z. Cunningham,
S. Rahman,
P. Chinnery
|
7 |
2017 |
7
🐜
|
|
🦁
|
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)
16 auth.
M. Kruer,
C. Paisán-Ruiz,
N. Boddaert,
M. Yoon,
H. Hama,
A. Gregory,
A. Malandrini,
R. Woltjer,
A. Munnich,
S. Gobin,
...
Brenda J. Polster,
S. Palmeri,
S. Edvardson,
J. Hardy,
H. Houlden,
S. Hayflick
|
7 |
2010 |
7
🦁
|
|
🐜
|
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
38 auth.
S. Hayflick,
M. Kruer,
A. Gregory,
T. Haack,
M. Kurian,
H. Houlden,
James Anderson,
N. Boddaert,
L. Sanford,
S. Harik,
Vasuki H Dandu,
N. Nardocci,
G. Zorzi,
T. Dunaway,
M. Tarnopolsky,
...
Steven A. Skinner,
K. Holden,
S. Frucht,
Era K. Hanspal,
C. Schrander‐Stumpel,
C. Mignot,
D. Heron,
D. Saunders,
M. Kaminska,
Jean-Pierre Lin,
K. Lascelles,
S. Cuno,
E. Meyer,
B. Garavaglia,
K. Bhatia,
R. de Silva,
S. Crisp,
P. Lunt,
Martyn Carey,
J. Hardy,
T. Meitinger,
H. Prokisch,
P. Hogarth
|
7 |
2013 |
7
🐜
|
|
🐜
|
Paraneoplastic Neurological Syndromes and Glutamic Acid Decarboxylase Antibodies.
13 auth.
H. Ariño,
R. Höftberger,
N. Gresa-arribas,
E. Martínez-Hernandez,
T. Armangué,
M. Kruer,
J. Arpa,
J. Domingo,
Bojan Rojc,
L. Bataller,
...
A. Saiz,
J. Dalmau,
F. Graus
|
7 |
2015 |
7
🐜
|
|
🐢
|
The genetic basis of cerebral palsy
M. Fahey,
A. Maclennan,
D. Kretzschmar,
J. Gécz,
M. Kruer
|
7 |
2017 |
7
🐢
|
|
🐢
|
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
77 auth.
S. Jin,
Sara A. Lewis,
S. Bakhtiari,
Xue Zeng,
M. Sierant,
S. Shetty,
Sandra M. Nordlie,
Auréliane Elie,
M. Corbett,
Bethany Y. Norton,
C. V. van Eyk,
S. Haider,
Brandon S. Guida,
H. Magee,
James Liu,
...
S. Pastore,
J. Vincent,
Janice E. Brunstrom-Hernandez,
Antigone Papavasileiou,
M. Fahey,
J. Berry,
K. Harper,
Chongchen Zhou,
Junhui Zhang,
Boyang Li,
Hongyu Zhao,
Jennifer Heim,
D. L. Webber,
M. Frank,
Lei Xia,
Yiran Xu,
Dengna Zhu,
Bohao Zhang,
A. Sheth,
James R. Knight,
C. Castaldi,
Irina R. Tikhonova,
F. López-Giráldez,
B. Keren,
S. Whalen,
J. Buratti,
D. Doummar,
M. Cho,
K. Retterer,
F. Millan,
Yangong Wang,
J. Waugh,
Lance H Rodan,
Julie S. Cohen,
A. Fatemi,
A. Lin,
J. Phillips,
T. Feyma,
S. MacLennan,
Spencer Vaughan,
Kylie E. Crompton,
S. Reid,
D. Reddihough,
Qing Shang,
Chao Gao,
I. Novak,
N. Badawi,
Yana A. Wilson,
S. Mcintyre,
S. Mane,
Xiaoyang Wang,
D. Amor,
Daniela C. Zarnescu,
Q. Lu,
Qinghe Xing,
Changlian Zhu,
K. Bilguvar,
S. Padilla-Lopez,
R. Lifton,
J. Gécz,
A. Maclennan,
M. Kruer
|
6 |
2020 |
6
🐢
|
|
🦁
|
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration.
9 auth.
M. Kruer,
Mark Hiken,
A. Gregory,
A. Malandrini,
David Clark,
P. Hogarth,
...
M. Grafe,
S. Hayflick,
R. Woltjer
|
6 |
2011 |
6
🦁
|
