Carlos E Speck-Martins
Overview
Explore the profile of Carlos E Speck-Martins including associated specialties, affiliations and a list of published articles.
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Articles
16
Citations
300
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0
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Recent Articles
1.
Carvalho D, Speck-Martins C, Martins B, Izumi A, La Rocque-Ferreira A
J Pediatr Genet
. 2023 Apr;
12(2):144-149.
PMID: 37090838
Acute necrotizing encephalopathy (ANE) is clinically characterized by fever, acute alteration of consciousness, seizures, and rapid progression to coma within days of onset of a viral illness occurring in healthy...
2.
Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schopflin R, et al.
Nature
. 2021 Feb;
592(7852):93-98.
PMID: 33568816
Long non-coding RNAs (lncRNAs) can be important components in gene-regulatory networks, but the exact nature and extent of their involvement in human Mendelian disease is largely unknown. Here we show...
3.
Carvalho D, Speck-Martins C, Brum J, Ferreira C, Sobreira N
Am J Med Genet A
. 2020 May;
182(7):1796-1800.
PMID: 32420688
Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal...
4.
Perez-Siles G, Cutrupi A, Ellis M, Kuriakose J, La Fontaine S, Mao D, et al.
Dis Model Mech
. 2020 Jan;
13(2).
PMID: 31969342
encodes a copper-transporting P-type ATPase and is one of 23 genes in which mutations produce distal hereditary motor neuropathy (dHMN), a group of diseases characterized by length-dependent axonal degeneration of...
5.
Abe K, Rizzo I, Coelho A, Sakai Jr N, Carvalho D, Speck-Martins C
Clin Case Rep
. 2018 Jul;
6(7):1300-1307.
PMID: 29988626
We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia-clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of...
6.
Santos S, Rizzo I, Takata R, Speck-Martins C, Brum J, Sollaci C
Mol Genet Genomic Med
. 2018 Mar;
6(3):382-392.
PMID: 29529714
Background: Multiple osteochondromas is a dysplasia characterized by growth of two or more osteochondromas. It is genetically heterogeneous, caused by pathogenic variants in EXT1 or EXT2 genes in 70%-90% of...
7.
Telegrafi A, Webb B, Robbins S, Speck-Martins C, Fitzpatrick D, Fleming L, et al.
Am J Med Genet A
. 2017 Aug;
173(10):2763-2771.
PMID: 28777491
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and...
8.
Di Gioia S, Connors S, Matsunami N, Cannavino J, Rose M, Gilette N, et al.
Nat Commun
. 2017 Jul;
8:16077.
PMID: 28681861
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes...
9.
Perez-Siles G, Grant A, Ellis M, Ly C, Kidambi A, Khalil M, et al.
Metallomics
. 2016 Jun;
8(9):981-92.
PMID: 27293072
ATP7A is a P-type ATPase essential for cellular copper (Cu) transport and homeostasis. Loss-of-function ATP7A mutations causing systemic Cu deficiency are associated with severe Menkes disease or its milder allelic...
10.
Carvalho D, Farage L, Martins B, Brum J, Speck-Martins C, Pratesi R
J Neuroimaging
. 2012 Aug;
24(2):155-60.
PMID: 22928720
Background And Purpose: Hyperargininemia (HA) is a rare autosomal recessive metabolic disorder and the neuroimaging features of this disease have seldom been reported. Hyperammonemic encephalopathy is uncommon in HA, and...