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2 research outputs found
Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
Author
A Durr
A D’Amico
+32Â more
AF Akhmetgaleeva
AU Meszarosova
C Depienne
C Depienne
C Lu
CJ McDermott
E Elert-Dobkowska
GE Rudenskaia
GE Rudenskaya
GH Zhao
H Ishiura
H Vandebona
IA Meijer
IK Svenson
IM Khidiyatova
J Loureiro
J Schickel
JC Lindsey
M Mitne-Neto
N Fonknechten
OP Ryzhkova
P Balicza
PM Boone
RWS SchĂĽle
S Klebe
S Richards
T Lo Giudice
V Alvarez
V Chelban
VA Kadnikova
X Zhao
Y Luo
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Leber’s hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene – case report
Author
A Bianco
A Bianco
+47Â more
A Bianco
Angelica Bianco
Apollonia Tullo
C Calabrese
C Giordano
C La Morgia
C Saccone
EK Nikoskelainen
FM Meire
G Hudson
GE Rudenskaia
H Kokotas
I Funakawa
J Finsterer
J Kwittken
J Lu
J Mengel-From
J Wang
JM Neefs
KE Bendall
Luigi Bisceglia
M Rydzanicz
M Watanabe
M Zeviani
MA Khan
Maria Fara De Caro
MM Grazina
MX Guan
P Niehusmann
P Yu-Wai-Man
Patrizia De Bonis
PF Chinnery
PF Chinnery
R Bi
R McFarland
RH Li
S Tommasi
Silvana Guerriero
Stefano Zoccolella
TR Prezant
V Carelli
V Carelli
V Epshtein
Valeria Galeandro
Vittoria Petruzzella
Y Watanabe
Z Li
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref