Nicholas E Johnson
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Explore the profile of Nicholas E Johnson including associated specialties, affiliations and a list of published articles.
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832
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Recent Articles
1.
Wang L, Hatch M, McDermott M, Martens W, Eichinger K, Lewis L, et al.
Neuromuscul Disord
. 2025 Feb;
48:105279.
PMID: 39978161
Patients with FSHD can develop scapular winging and loss of ability to raise arm. Reachable workspace (RWS) is able to describe upper extremity (UE) reaching ability. We analyzed data from...
2.
Provenzano M, Ikegami K, Bates K, Gaynor A, Hartman J, Jones A, et al.
J Clin Invest
. 2025 Jan;
135(4).
PMID: 39836447
BACKGROUNDMyotonic dystrophy type 1 (DM1) is a multisystemic, CTG repeat expansion disorder characterized by a slow, progressive decline in skeletal muscle function. A biomarker correlating RNA mis-splicing, the core pathogenic...
3.
Alfano L, James M, Grosfjeld Petersen K, Rudolf K, Vissing J, Augsburger R, et al.
Ann Clin Transl Neurol
. 2024 Dec;
12(2):332-344.
PMID: 39675022
Objective: Limb-girdle muscular dystrophy R9 (LGMDR9, formerly known as LGMD2I), caused by variants in the fukutin-related protein (FKRP) gene leads to progressive muscle weakness of the shoulder and pelvic limb-girdles...
4.
RNA mis-splicing in children with congenital myotonic dystrophy is associated with physical function
Hartman J, Ikegami K, Provenzano M, Bates K, Butler A, Jones A, et al.
Ann Clin Transl Neurol
. 2024 Oct;
11(12):3175-3191.
PMID: 39450929
Objectives: Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis-splicing and physical function in children with the most severe form...
5.
Trucco F, Lizio A, Roma E, Di Bari A, Salmin F, Albamonte E, et al.
J Clin Med
. 2024 Sep;
13(18).
PMID: 39336946
Sleep disorders have been poorly described in congenital (CDM) and childhood (ChDM) myotonic dystrophy despite being highly burdensome. The aims of this study were to explore sleep disorders in a...
6.
Trucco F, Albamonte E, Pane M, Ricci F, DAmico A, Astrea G, et al.
Dev Med Child Neurol
. 2024 Sep;
67(3):365-373.
PMID: 39231278
Aim: To investigate the timing of type 1 myotonic dystrophy (DM1) diagnosis in parents of affected children and describe children's perinatal characteristics and developmental outcomes. Method: This was a descriptive...
7.
Hartman J, Ikegami K, Provenzano M, Bates K, Butler A, Jones A, et al.
bioRxiv
. 2024 Aug;
PMID: 39109179
Objectives: Dysregulated RNA alternative splicing is the hallmark of myotonic dystrophy type 1 (DM1). However, the association between RNA mis-splicing and physical function in children with the most severe form...
8.
Stouffer J, Bates K, Thacker L, Heatwole C, Johnson N
Neuromuscul Disord
. 2024 May;
39:48-53.
PMID: 38795602
Limb girdle muscular dystrophy (LGMD) is a debilitating disease and the fourth most common muscular dystrophy. This study describes the development of the LGMD-Health Index (LGMD-HI). Participants were aged >18...
9.
Doody A, Alfano L, Diaz-Manera J, Lowes L, Mozaffar T, Mathews K, et al.
BMC Neurol
. 2024 Mar;
24(1):96.
PMID: 38491364
Background: The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations. This study...
10.
Hartman J, Patki T, Johnson N
JAMA
. 2024 Mar;
331(14):1227-1228.
PMID: 38466298
No abstract available.