|
🐜
|
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
22 auth.
P. Bonnen,
J. W. Yarham,
A. Besse,
Ping Wu,
E. Faqeih,
A. Al-Asmari,
M. A. Saleh,
W. Eyaid,
Alrukban Hadeel,
Langping He,
...
Frances Smith,
S. Yau,
Eve M. Simcox,
S. Miwa,
T. Donti,
K. Abu-Amero,
L. Wong,
W. Craigen,
B. Graham,
K. Scott,
R. Mcfarland,
Robert W. Taylor
|
7 |
2013 |
7
🐜
|
|
🦁
|
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.
12 auth.
A. Besse,
Ping Wu,
Francesco Bruni,
T. Donti,
B. Graham,
W. Craigen,
...
R. Mcfarland,
P. Moretti,
S. Lalani,
K. Scott,
Robert W. Taylor,
P. Bonnen
|
6 |
2015 |
6
🦁
|
|
🐜
|
Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease.
8 auth.
Ashlee R. Stiles,
S. Ferdinandusse,
A. Besse,
V. Appadurai,
K. Leydiker,
E. J. Cambray-Forker,
...
P. Bonnen,
J. Abdenur
|
5 |
2015 |
5
🐜
|
|
🐜
|
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
46 auth.
R. Husain,
M. Grimmel,
M. Wagner,
J. Hennings,
Christian Marx,
R. Feichtinger,
Abdelkrim Saadi,
K. Rostásy,
Florentine Radelfahr,
A. Bevot,
M. Döbler-Neumann,
H. Hartmann,
L. Colleaux,
I. Cordts,
X. Kobeleva,
...
H. Darvish,
S. Bakhtiari,
M. Kruer,
A. Besse,
A. C. Ng,
D. Chiang,
F. Bolduc,
A. Tafakhori,
S. Mane,
S. G. Firouzabadi,
A. Huebner,
R. Buchert,
Stefanie Beck-Woedl,
A. Müller,
L. Laugwitz,
T. Nägele,
Zhao-Qi Wang,
T. Strom,
M. Sturm,
T. Meitinger,
T. Klockgether,
O. Riess,
T. Klopstock,
U. Brandl,
C. Hübner,
M. Deschauer,
J. Mayr,
P. Bonnen,
I. Krägeloh-Mann,
S. Wortmann,
T. Haack
|
4 |
2020 |
4
🐜
|
|
🐜
|
Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria
18 auth.
M. Oláhová,
K. Thompson,
S. Hardy,
I. Barbosa,
A. Besse,
M. Anagnostou,
K. White,
T. Davey,
M. Simpson,
M. Champion,
...
G. Enns,
S. Schelley,
R. Lightowlers,
Z. Chrzanowska-Lightowlers,
R. Mcfarland,
C. Deshpande,
P. Bonnen,
Robert W. Taylor
|
4 |
2016 |
4
🐜
|
|
🐜
|
Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion
10 auth.
J. Alaimo,
A. Besse,
C. Alston,
Ki Pang,
V. Appadurai,
Monisha Samanta,
...
Patroula Smpokou,
R. Mcfarland,
Robert W. Taylor,
P. Bonnen
|
4 |
2018 |
4
🐜
|
|
🦁
|
Personalized medicine approach confirms a milder case of ABAT deficiency
A. Besse,
A. Petersen,
J. Hunter,
V. Appadurai,
S. Lalani,
P. Bonnen
|
4 |
2016 |
4
🦁
|
|
🐜
|
POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism
20 auth.
L. Van Maldergem,
A. Besse,
B. De Paepe,
E. Blakely,
V. Appadurai,
Margaret M. Humble,
J. Piard,
K. Craig,
Langping He,
P. Hella,
...
F. Debray,
Jean-Jacques Martin,
M. Gaussen,
P. Laloux,
G. Stevanin,
R. Van Coster,
Robert W. Taylor,
W. Copeland,
E. Mormont,
P. Bonnen
|
4 |
2016 |
4
🐜
|
