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1 . Academic Journal
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD)
저자
by
Sara Aguti
;
Gian Nicola Gallus
;
Silvia Bianchi
;
Simona Salvatore
;
Anna Rubegni
, et al.
소스
Cells, Vol 13, Iss 4, p 329 (2024)
Open Access (DOAJ)
Web of Science
Scopus
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7 .
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis
저자
by
Diego Lopergolo
;
Gianna Berti
;
Francesca Mari
;
Enrico Bertini
;
Alessandra Rufa
, et al.
소스
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
. 43(4)
Scopus
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7 .
An atypical case of spastic paraplegia type 11 mimicking a GM2 gangliosidoses
저자
by
Carla Battisti
;
Alessandra Rufa
;
Alessandro Malandrini
;
Francesca Mari
;
Gianna Berti
, et al.
소스
Journal of the Neurological Sciences
. 429:118254
Full Text (Clinical Key)
Web of Science
Scopus
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7 .
Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?
저자
by
Filippa Castello
;
Mariangela Lo Giudice
;
Carmela Scuderi
;
Simona Salvatore
;
Eugenia Borgione
, et al.
소스
Neurological Sciences
. 37:805-807
Open Access (OpenAIRE)
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7 .
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy
저자
by
Elisa Costanzi
;
Giuliano Tomelleri
;
Valentina Polverino
;
Nila Volpi
;
Gabriele Siciliano
, et al.
소스
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7 .
Amyloid Arthropathy: When the Rheumatologist Meets the Hematologist
저자
by
Marco Bardelli
;
Giacomo Maria Guidelli
;
Gianna Berti
;
Enrico Selvi
.
소스
Journal of clinical rheumatology : practical reports on rheumaticmusculoskeletal diseases
. 22(5)
Full Text (LWW)
Scopus
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6 .
A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency
저자
by
Edoardo Malfatti
;
Elena Cardaioli
;
Alessandro Malandrini
;
Paola Da Pozzo
;
Antonio Federico
, et al.
소스
European Journal of Human Genetics
. 17:1092-1096
Open Access (OpenAIRE)
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7 .
Typical pathological changes of CADASIL in the optic nerve
저자
by
Antonio Federico
;
Alessandro Malandrini
;
Maria Teresa Dotti
;
Alessandra Rufa
;
Claudio Salvadori
, et al.
소스
Neurological Sciences
. 26:271-274
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
Web of Science
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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
Web of Science
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