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1 .
Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy
저자
by
David R. Williams
;
Peter Hackman
;
Katrina Reardon
;
Catriona McLean
;
Dieter O. Fürst
, et al.
소스
The American Journal of Human Genetics
. 88:729-740
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7 .
Leukoencephalopathy as a rare complication of hepatitis C infection
저자
by
Francesco Sicurelli
;
S. Gambelli
;
Alessandro Malandrini
;
S. A. Musumeci
;
R. Buccoliero
, et al.
소스
Neurological Sciences
. 27:360-363
Full Text (Springer)
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7 .
Antibodies to dorsal root ganglia and olfactory cells in a patient with chronic sensory neuropathy and anosmia
저자
by
Alessandro Rossi
;
Bellussi Luisa
;
S. Gambelli
;
Federica Ginanneschi
;
Alessandro Malandrini
, et al.
소스
Journal of the Neurological Sciences
. 221:105-108
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7 .
Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type
저자
by
Vincenzo Leuzzi
;
Antonio Federico
;
Carlo Casali
;
M Valoppi
;
Filippo M. Santorelli
, et al.
소스
Neurology
. 62:103-106
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7 .
PAX6mutation in a family with aniridia, congenital ptosis, and mental retardation
저자
by
Van Heyningen
;
Silvia Palmeri
;
Mirella Bruttini
;
Kathy Williamson
;
Am Bardelli
, et al.
소스
Clinical Genetics
. 60:151-154
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7 .
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils
저자
by
Giovanni Serni
;
Antonio Federico
;
Alessandro Malandrini
;
Maria Teresa Dotti
;
Gianna Berti
, et al.
소스
European Neurology
. 56:172-174
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7 .
Peripheral neuropathy in late-onset Krabbe disease: report of three cases
저자
by
Alessandro Malandrini
;
Maria Teresa Dotti
;
A Kuqo
;
Gianna Berti
;
Camilla D'Eramo
, et al.
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7 .
A syndrome of bilateral hemorrhage of the thalamus and myocarditis with fatal course
저자
by
Alessandro Malandrini
;
S. Gambelli
;
D Luchini
;
M Di Paolo
;
Antonio Federico
, et al.
소스
Journal of Clinical Forensic Medicine
. 11:208-210
Scopus
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7 .
DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement
저자
by
Alessandro Malandrini
;
Antonio Federico
;
Gianna Berti
;
Sergio Tripodi
;
Alessandra Tessa
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry
. 75:930-932
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7 .
CONGENITAL MYOPATHIES
저자
by
A. Malandrini
;
S. Gambelli
;
A. Orrico
;
L. Galli
;
C. Gaudiano
, et al.
소스
Journal of the Siena Academy of Sciences
. 1
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