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25 research outputs found
The broad clinical spectrum of hereditary neuropathy with liability to pressure palsy (HNPP)
Author
Bird TD
Chrestian N
+9Â more
Luigetti M
Mouton P
Oliveira APM
Osvaldo JM Nascimento
Pareyson D
Pasnoor M
Saporta AS
Saporta MA
Topakian R
Publication venue
'FapUNIFESP (SciELO)'
Publication date
Field of study
Full text link
Crossref
Molecular diagnosis of Charcot–Marie–Tooth disease
Author
AA Amato
AE Harding
+7Â more
AS Saporta
D Pareyson
J Berciano
J Burns
JD England
José Berciano
O Dubourg
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Exome sequencing and diffusion tensor imaging in developmental disabilities
Author
A.H.M. Huq
AS Saporta
+21Â more
BJ Wilson
DM Alvarado
DT Miller
Harry Chugani
I Brunet
JK Chilton
JW Jeong
LE Vissers
O MarÃn
PT Fletcher
QX Liu
SB Ng
SB Ng
Senthil Sundaram
SJ Sanders
SK Sundaram
SK Sundaram
SP Gopal
SU Peters
Tammy Hsia
TH Beaty
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease
Author
A Harada
AC Redmond
+25Â more
AS Saporta
B Ravikumar
B Schmid
C Bucci
C Espinos
DC Rogers
HS Ilieva
HT Hoang
I Arganda-Carreras
J Gepner
J Harborth
JR Sanes
L Padua
LJ Miller
M Hafezparast
MN Weedon
R El-Abassi
RT Abresch
RT Abresch
S Karki
S Sivagurunathan
SL Courchesne
T Dick
XJ Chen
Y Tsurusaki
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Frequency of Causative Genes in Korean Hereditary Peripheral Neuropathy Patients
Author
Abe A
Auer-Grumbach M
+26Â more
Bort S
Charcot J
Choi BO
Choi BO
Choi BO
Choi BO
Choi BO
Chung KW
Chung KW
Chung KW
Dierick I
Eun Kyung Park
Ishiura H
Khriezhanuo Nakhro
Kim HJ
Kim Y
Lee HJ
Mostacciuolo ML
Murphy SM
Nicholson GA
Passage E
Sahenk Z
Saporta AS
Sereda MW
Skre H
ì •í™”ê²½
Publication venue
'Korean Association of EMG Electrodiagnostic Medicine'
Publication date
Field of study
No full text
Crossref
Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot–Marie–Tooth neuropathy and a mutation in HSPB1
Author
A Patzko
AK Persson
+26Â more
AM Sulonen
AS Saporta
BO Choi
C Osman
CG Faber
Emil Ylikallio
GJ Braathen
GJ Braathen
Henna Tyynismaa
JF Sathirapongsasuti
JR Lupski
JR Lupski
Jukka S Moilanen
K Engelfried
K Szigeti
Leila Pajunen
M Auranen
M Estacion
Mari Auranen
ME Shy
MN Weedon
Mridul Johari
Obaid M. Albulym
OV Evgrafov
Sari Kiuru-Enari
Svetlana Konovalova
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Ultrasound of inherited vs. acquired demyelinating polyneuropathies
Author
A Volpe
Alan Pestronk
+23Â more
AS Saporta
C Martinoli
CM Zaidman
CM Zaidman
Craig M. Zaidman
E Scheidl
G Granata
Joint Task Force of the EFNS PNS
JT Mhoon
K Imamura
L Padua
L Padua
L Padua
Matthew B. Harms
MS Cartwright
MS Cartwright
N Matsuoka
PY Bergh Van den
R Beekman
R Beekman
S Schreiber
T Sugimoto
V Almeida
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot–Marie–Tooth Disease Type 2
Author
A Echaniz-Laguna
AP Drew
+25Â more
AS Saporta
B Gess
C Foley
CJ Klein
F Fecto
G Landoure
H Skre
Han-Xiang Deng
Hong Zhai
HX Deng
K Verhoeven
KA Fawcett
Luna Zhan
M Auer-Grumbach
M Zimon
ME Shy
MF Dohrn
Michael E. Shy
R Sivera
S Rudnik-Schoneborn
Shawna M. E. Feely
Sheng Deng
SM Murphy
Teepu Siddique
Yong Shi
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations
Author
A Arnold
AE Harding
+29Â more
AS Saporta
Bjørn Nygård
CS Richards
F Meggouh
G Nicholson
GJ Braathen
GJ Braathen
GT Carter
H Skre
Helene Hjellnes
HJ Cho
HM Bienfait
K Verhoeven
KW Chung
KW Chung
ME Shy
N Birouk
O Dubourg
R Østern
Rune Østern
S Züchner
SE Plon
SM Murphy
Svein Ivar Mellgren
TD Bird
Toril Fagerheim
W Marques Jr
YH Kim
Øivind Nilssen
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Author
A Bouhouche
A Cortez
+31Â more
A Cuesta
A Marco
A Niemann
AS Saporta
B Gess
D Kabzińska
D Pla-Martın
D Pla-MartÃn
E Nelis
F Manganelli
F Manganelli
I Pezzini
J Cassereau
J Senderek
JF Martà Massó
JM Morrow
KW Chung
M Auranen
M Zimoń
ME Shy
N Birouk
R Claramunt
R Sadjadi
R Sivera
R Sivera
RV Baxter
SM Murphy
SM Murphy
T Sevilla
T Sevilla
V Fridman
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
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