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1 . Academic Journal
Intrathecal Gene Therapy for Giant Axonal Neuropathy.
저자
by
Bharucha-Goebel, D. X.
;
Todd, J. J.
;
Saade, D.
;
Norato, G.
;
Jain, M.
, et al.
소스
New England Journal of Medicine
. 3/21/2024, Vol. 390 Issue 12, p1092-1104. 13p.
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7 . Academic Journal
P445 Electrophysiologic and histologic findings following intrathecal AAV9 mediated gene transfer for giant axonal neuropathy
저자
by
Bharucha-Goebel, D.
;
Saade, D.
;
Todd, J.
;
Lehky, T.
;
Norato, G.
, et al.
소스
In
Neuromuscular Disorders
October 2023 33 Supplement 1:S189-S190
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7 . Academic Journal
P425 Inhibition of TGFβ signaling pathway as a therapeutic approach in collagen VI-related muscular dystrophy
저자
by
Mohassel, P.
;
Hearn, H.
;
Zou, Y.
;
Rooney, J.
;
Bönnemann, C.
.
소스
In
Neuromuscular Disorders
October 2023 33 Supplement 1:S158-S159
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7 . Academic Journal
P416 Systemic NAD+ deficiency reveals a potential therapeutic target for RYR1-related myopathies
저자
by
Lawal, T.
;
Riekhof, W.
;
Groom, L.
;
Varma, P.
;
Chrismer, I.
, et al.
소스
In
Neuromuscular Disorders
October 2023 33 Supplement 1:S128-S128
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7 . Academic Journal
P169 Childhood onset amyotrophic lateral sclerosis associated with SPTLC2 gain-of-function pathogenic variants: clinical, genetic, and biochemical insights
저자
by
Bach, R Or
;
Syeda, S.
;
Mohassel, P.
;
Dohrn, M.
;
Lone, M.
, et al.
소스
In
Neuromuscular Disorders
October 2023 33 Supplement 1:S107-S107
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7 . Academic Journal
P.155 Recurring homozygous ACTN2 variant (p.Arg506Gly) cause a recessive, adult-onset myofibrillar myopathy
저자
by
Donkervoort, S.
;
Mohassel, P.
;
O'Leary, M.
;
Hartley, T.
;
Mozaffar, T.
, et al.
소스
In
Neuromuscular Disorders
October 2022 32 Supplement 1:S110-S110
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7 . Academic Journal
O.10 First-in-human intrathecal gene transfer study for giant axonal neuropathy: Preliminary review of long-term efficacy and safety
저자
by
Bharucha-Goebel, D.
;
Saade, D.
;
Todd, J.
;
Norato, G.
;
Jain, M.
, et al.
소스
In
Neuromuscular Disorders
October 2022 32 Supplement 1:S94-S94
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7 . Academic Journal
I.08 Motor neuron disease caused by excess sphingolipid synthesis
저자
by
Mohassel, P.
;
Dunn, T.
;
Bönnemann, C.
.
소스
In
Neuromuscular Disorders
October 2022 32 Supplement 1:S94-S94
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5 . Academic Journal
P.33 Muscle ultrasound use in the initial diagnosis of childhood onset neuropathy and neuronopathy
저자
by
Zygmunt, A.
;
Deng, S.
;
Donkervoort, S.
;
Mohassel, P.
;
Bharucha-Goebel, D.
, et al.
소스
In
Neuromuscular Disorders
October 2022 32 Supplement 1:S57-S57
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7 . Academic Journal
P.08 Phase 1 open-label trial of Rycal S48168 (ARM210) for RYR1-related myopathies
저자
by
Todd, J.
;
Lawal, T.
;
Chrismer, I.
;
Kokkinis, A.
;
Grunseich, C.
, et al.
소스
In
Neuromuscular Disorders
October 2022 32 Supplement 1:S46-S46
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