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1 . Academic Journal
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome
저자
by
Francesca Nardecchia
;
Rosalba Carrozzo
;
Alice Innocenti
;
Alessandra Torraco
;
Valerio Zaccaria
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 819-825 (2024)
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7 . Academic Journal
Caspase-dependent apoptosis in Riboflavin Transporter Deficiency iPSCs and derived motor neurons
저자
by
Chiara Marioli
;
Maurizio Muzzi
;
Fiorella Colasuonno
;
Cristian Fiorucci
;
Nicolò Cicolani
, et al.
소스
Cell Death Discovery, Vol 10, Iss 1, Pp 1-11 (2024)
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7 . Academic Journal
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
저자
by
Daniela Piga
;
Martina Rimoldi
;
Francesca Magri
;
Simona Zanotti
;
Laura Napoli
, et al.
소스
Frontiers in Neurology, Vol 15 (2024)
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7 . Academic Journal
SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy
저자
by
Valeria Valsecchi
;
Francesco Errico
;
Valentina Bassareo
;
Carmen Marino
;
Tommaso Nuzzo
, et al.
소스
Communications Biology, Vol 6, Iss 1, Pp 1-19 (2023)
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7 . Academic Journal
WiTNNess: An international natural history study of infantile‐onset TNNT1 myopathy
저자
by
Kevin A. Strauss
;
Vincent J. Carson
;
Emilienne Bolettieri
;
Mariah Everett
;
Ashton Bollinger
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 1972-1984 (2023)
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7 . Academic Journal
The burden of mitochondrial disease with associated seizures: systematic literature reviews of health-related quality of life, utilities, costs and healthcare resource use data
저자
by
Enrico Bertini
;
Emily Gregg
;
Chris Bartlett
;
Vij Senthilnathan
;
Mick Arber
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-20 (2023)
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7 . Academic Journal
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates
저자
by
Daphne H. Schoenmakers
;
Prisca S. Leferink
;
Adeline Vanderver
;
Joshua L. Bonkowsky
;
Ingeborg Krägeloh-Mann
, et al.
소스
BMC Neurology, Vol 23, Iss 1, Pp 1-15 (2023)
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7 . Academic Journal
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
저자
by
Fernanda Fortunato
;
Francesca Bianchi
;
Giulia Ricci
;
Francesca Torri
;
Francesca Gualandi
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
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7 . Academic Journal
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
저자
by
Katie L. Ayers
;
Stefanie Eggers
;
Ben N. Rollo
;
Katherine R. Smith
;
Nadia M. Davidson
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
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7 . Academic Journal
Editorial: Tubulinopathies: fundamental and clinical challenges
저자
by
Antonella Sferra
;
Enrico Bertini
;
Georg Haase
.
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Frontiers in Cellular Neuroscience, Vol 17 (2023)
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