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1 . Academic Journal
Axonal excitability as an early biomarker of nerve involvement in hereditary transthyretin amyloidosis
저자
by
Carroll, Antonia S.
;
Park, Susanna B.
;
Lin, Cindy S.Y.
;
Taylor, Mark S.
;
Kwok, Fiona
, et al.
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In
Clinical Neurophysiology
March 2024 159:81-95
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7 . Academic Journal
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
저자
by
Esteller, Diana
;
Morrow, Jasper
;
Alonso-Pérez, Jorge
;
Reyes, David
;
Carbayo, Alvaro
, et al.
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In
Neuromuscular Disorders
October 2023 33(10):744-753
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7 . Academic Journal
Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease
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by
Green, Courtney R.
;
Bonelli, Roberto
;
Ansell, Brendan R.E.
;
Tzaridis, Simone
;
Handzlik, Michal K.
, et al.
소스
In
Molecular Metabolism
June 2023 72
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7 . Academic Journal
Charcot neuroarthropathy in patients with Charcot Marie Tooth Disease
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by
Singh, Dishan
;
Gray, Julia
;
Laura, Matilde
;
Reilly, Mary M.
.
소스
In
Foot and Ankle Surgery
December 2021 27(8):865-868
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6 . Academic Journal
Neurogenic arthrogryposis and the power of phenotyping
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by
Rossor, Alexander M.
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Reilly, Mary M.
.
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In
Neuromuscular Disorders
October 2021 31(10):1062-1069
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4 . Academic Journal
An iPSC model of hereditary sensory neuropathy-1 reveals L-serine-responsive deficits in neuronal ganglioside composition and axoglial interactions
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by
Clark, Alex J.
;
Kugathasan, Umaiyal
;
Baskozos, Georgios
;
Priestman, David A.
;
Fugger, Nadine
, et al.
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In
Cell Reports Medicine
20 July 2021 2(7)
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7 . Academic Journal
Rationale & Design of ACT-EARLY, the Acoramidis Transthyretin Amyloidosis Prevention Trial: Early Detection Using Cardiac Radionuclide Imaging
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by
Soman, Prem
;
Garcia-Pavia, Pablo
;
Gillmore, Julian D.
;
Adams, David
;
Conceicao, Isabel
, et al.
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In
Journal of Nuclear Cardiology
August 2024 38 Supplement
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7 . Academic Journal
The evolving spectrum of complex inherited neuropathies.
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by
Rossor, Alexander M.
;
Haddad, Saif
;
Reilly, Mary M.
.
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Current Opinion in Neurology; Oct2024, Vol. 37 Issue 5, p427-444, 18p
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5 . Academic Journal
Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.
저자
by
Sadjadi, Reza
;
Picher-Martel, Vincent
;
Morrow, Jasper M.
;
Thedens, Daniel
;
DiCamillo, Paul A.
, et al.
소스
Neurology; 9/10/2024, Vol. 103 Issue 5, p1-8, 8p
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7 . Academic Journal
Lessons and pitfalls of whole genome sequencing.
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by
Record, Christopher J.
;
Reilly, Mary M.
.
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Practical Neurology
. Aug2024, Vol. 24 Issue 4, p1-12. 12p.
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