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11 . Conference
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
저자
by
Barthélémy, Inès
;
Bourke, John P.
;
Cripe, Linda H
;
Reuben, Emily
;
Evangelista, Teresinha
, et al.
소스
In
Neuromuscular Disorders
March 2023 33(3):274-284
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17 . Academic Journal
Neurology and the histiocytoses: a case of Rosai- Dorfman- Destombes disease.
저자
by
Carroll, Antonia S.
;
Doherty, Carolynne M.
;
Blake, Julian
;
Hunt, Stephen J.
;
Hoskote, Chandrashekar
, et al.
소스
Practical Neurology
. Oct2022, Vol. 22 Issue 5, p396-406. 12p.
Full Text (BMJ Journals)
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17 . Academic Journal
Strawberries on the Brain—Intracranial Capillary Hemangioma: Two Case Reports and Systematic Literature Review in Children and Adults
저자
by
Mirza, Bilal
;
Shi, William Y.
;
Phadke, Rahul
;
Holton, Janice L.
;
Turner, Chris
, et al.
소스
In
World Neurosurgery
December 2013 80(6):900-900
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17 . Academic Journal
GGPS1-associated muscular dystrophy with and without hearing loss.
저자
by
Kaiyrzhanov, Rauan
;
Perry, Luke
;
Rocca, Clarissa
;
Zaki, Maha S.
;
Hosny, Heba
, et al.
소스
Annals of Clinical & Translational Neurology
. Sep2022, Vol. 9 Issue 9, p1465-1474. 10p.
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17 . Academic Journal
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
저자
by
Kim, Hong Joo
;
Mohassel, Payam
;
Donkervoort, Sandra
;
Guo, Lin
;
O'Donovan, Kevin
, et al.
소스
Nature Communications; 4/28/2022, Vol. 13 Issue 1, p1-18, 18p
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17 .
Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects
저자
by
Zambon, Alberto A.
;
Lemaigre, Alexandra
;
Phadke, Rahul
;
Grunewald, Stephanie
;
Sewry, Caroline
, et al.
소스
In
Neuromuscular Disorders
March 2021 31(3):212-217
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17 . Academic Journal
TRAPPC11‐related muscular dystrophy with hypoglycosylation of alpha‐dystroglycan in skeletal muscle and brain.
저자
by
Munot, Pinki
;
McCrea, Nadine
;
Torelli, Silvia
;
Manzur, Adnan
;
Sewry, Caroline
, et al.
소스
Neuropathology & Applied Neurobiology
. Feb2022, Vol. 48 Issue 2, p1-16. 16p.
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17 . Academic Journal
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease.
저자
by
Mroczek, Magdalena
;
Zafeiriou, Dimitrios
;
Gurgel-Gianetti, Juliana
;
Vilela Morais de Azevedo, Beatriz
;
Roos, Andreas
, et al.
소스
Neuropediatrics
. 2021, Vol. 52 Issue 5, p390-393. 4p.
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17 . Academic Journal
Ageing contributes to phenotype transition in a mouse model of periodic paralysis.
저자
by
Suetterlin, Karen J.
;
Tan, S. Veronica
;
Mannikko, Roope
;
Phadke, Rahul
;
Orford, Michael
, et al.
소스
JCSM Rapid Communications; Jul2021, Vol. 4 Issue 2, p245-259, 15p
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17 . Periodical
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients
저자
by
Torelli, Silvia
;
Scaglioni, Domenic
;
Sardone, Valentina
;
Ellis, Matthew J
;
Domingos, Joana
, et al.
소스
Journal of Neuropathology and Experimental Neurology; October 2021, Vol. 80 Issue: 10 p955-965, 11p
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