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5 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
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
Author
A Citterio
A D'Amore
+43Â more
A. V. Polyakov
AE Van Beusichem
AM Muir
BP van de Warrenburg
C Lu
C Ohba
C Spagnoli
CK Cheon
D Samanta
D. N. Khmelkova
D. S. Guseva
DR Gabrych
E Elert-Dobkowska
E Ylikallio
E. L. Dadali
FF Hamdan
G. E. Rudenskaya
J Wang
JB Rivière
JR Lee
K Yoshikawa
L Hotchkiss
L Raffa
L. A. Bessonova
M Krenn
M Kurihara
M Pennings
N Okamoto
O. P. Ryzhkova
OP Ryzhkova
PJ Tomaselli
RH Roda
S Esmaeeli Nieh
S Klebe
S Klebe
S Langlois
S Morais
S Richards
T. V. Markova
V. A. Kadnikova
Y Erlich
Y Guo
Z Iqbal
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis
Author
A Abel
A Al-Maawali
+58Â more
A DĂĽrr
A D’Amico
A Magariello
A Orlacchio
A Sulek
A Tessa
AA Polymeris
AE Harding
BN Smith
C Fusco
C Fusco
C Guelly
CJ Klein
CJ Mc Dermott
CM Sanderson
CM Tallaksen
DS McCorquodale III
E Elert-Dobkowska
E Sartori
H Ishiura
H Park
IA Meijer
J Haberlová
J Hazan
JL Loureiro
JL Loureiro
JW Shin
K Svenstrup
KY Chan
L Leonardi
L Leonardis
L Ming
M Matsui
M Muglia
M Namekawa
M Namekawa
MF Leva de
MJ Kwon
N Ivanova
N Zhao
P Balicza
P Hedera
PA Wilkinson
RE Varga
S Rainier
SM Sauter
SQ Chen
ST Bot de
T Terada
T Yonekawa
TN Khan
V Alvarez
V Scarano
X Lu
X Zhao
XH Li
Y Luo
Z Gan-Or
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype
Author
A Barateau
A Bouhouche
+89Â more
A Cristini
A de Amicis
A De Sandre-Giovannoli
A Patel
AC Murthy
B Burke
BM Machiels
BR Brooks
C Fallini
C Favreau
C Favreau
C Grunseich
C Grunseich
C Vance
C Vance
CA Droppelmann
CA Droppelmann
CL Bennett
D Dormann
DN Simon
DR Rosen
DZ Fisher
E Elert-Dobkowska
F Lin
FD McKeon
H Cao
H Zhao
H Zinszner
I Adzhubei
J Lammerding
J Lammerding
J Scharner
JC Mitchell
K Furukawa
K Tripolszki
K Volkening
KN Dahl
KN Dahl
L Cartegni
L Cartegni
L Schols
M de Carvalho
M Dejesus-Hernandez
M Groh
M Hirano
M Kircher
M Lek
M Neumann
M Zhao
MGL Perego
MJ Landrum
MJ Strong
MJ Strong
O Yuce
OJ Becherel
P Kumar
P Nicolaou
PD Stenson
PD Stenson
R Bokenkamp
R Mejzini
RAA van der Spek
S Cohen
S Da Cruz
S Rudnik-Schoneborn
S Rudnik-Schoneborn
SJ Hill
SMK Farhan
SMK Farhan
SMK Farhan
SMK Farhan
T Arai
T Dechat
T Murakami
T Murakami
T Shimi
T Van Langenhove
TA Dittmer
TJ Kwiatkowski Jr
V Bernard
V Majumder
V Picher-Martel
WA Boekestein
WY Wang
Y Ma
YZ Chen
YZ Chen
ZY Zou
ZY Zou
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Genotype–phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients
Author
A Abel
A Boukhris
+118Â more
A Boukhris
A Citterio
A Durr
A D’Amore
A Erichsen
A Magariello
A Martinuzzi
A Noreau
A Orlacchio
A Sulek
AA Polymeris
AK Erichsen
AS Soehn
AU Meszarosova
AU Mészárosová
B Tang
Behnam Alipoor
BN Smith
C Beetz
C Beetz
C Crimella
C Depienne
C Depienne
C Goizet
C Goizet
C McDermott
C Paisan-Ruiz
C Paisan-Ruiz
C Paisan-Ruiz
C Patrono
C Proukakis
C Proukakis
C Tesson
D Burguez
D Moher
D Orsucci
DS Lynch
DS Lynch
DS McCorquodale 3rd
E Elert-Dobkowska
F Crippa
G Stevanin
G Yoon
G-h Zhao
H Ishiura
H Park
H Vandebona
Hamid Ghaedi
Hossein Darvish
I Faber
I Yabe
IA Meijer
J Du
J Faber
J Lindsey
J Loureiro
JH Schuurs-Hoeijmakers
JK Fink
JL Loureiro
JM Solowska
K Svenstrup
KJ Schlang
KL Helbig
KR Kumar
KR Kumar
KW Fjermestad
L Nanetti
L Samaranch
L Travaglini
L Travaglini
LE Elsayed
M Boutry
M Braschinsky
M Conceicao Pereira
M Falco
M Gonzalez
M Namekawa
M Shoukier
Maryam Erfanian Omidvar
MC Franca Jr
MC Franca Jr
Mir Davood Omrani
MJ Lee
MY Lan
MY Lan
N Chrestian
N Ivanova
N Zhao
P Balicza
P Ribai
PS Denora
QZ Fei
R Basri
R Battini
R SchĂĽle
S Bhattacharjee
S Klebe
S Morais
S Sauter
S ZĂĽchner
Shahram Torkamandi
SM Kim
SM Sauter
Somaye Rezaei
SS Liao
ST de Bot
ST de Bot
ST de Bot
SY Park
T Kawarai
TH Kim
TL Giudice
V Alvarez
V Chelban
V Pensato
X Liao
X Lu
Y Luo
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref