1 |
European Neuromuscular Centre consensus statement on anaesthesia in patients with neuromuscular disorders.
62
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van den Bersselaar LR...Snoeck MMJ
|
35971866 |
2022 |
2 |
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
62
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Yuan JH...Takashima H
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35907044 |
2022 |
3 |
Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.
62
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Li Y...Huang X
|
35170402 |
2022 |
4 |
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies.
62
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Vivekanandam V...Hanna MG
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36382348 |
2022 |
5 |
Effectiveness and safety of mexiletine in patients at risk for (recurrent) ventricular arrhythmias: a systematic review.
62
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van der Ree MH...Postema PG
|
36036670 |
2022 |
6 |
Prevalence of Genetic Mutations in Horses With Muscle Disease From a Neuromuscular Disease Laboratory.
62
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Aleman M...Bellone RR
|
36150530 |
2022 |
7 |
Clinical score for early diagnosis of myotonic dystrophy type 2.
62
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Ivanovic V...Rakocevic-Stojanovic V
|
36401657 |
2022 |
8 |
[Dystrophia myotonica Type 1 associated with glioblastoma: a case report].
62
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Katayama T...Mukasa A
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36288964 |
2022 |
9 |
[Retrospective study on clinical manifestation, thigh MRI and electrophysiology characteristics of immune-mediated necrotizing myopathy].
62
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Qiao LY...Pu C
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36207969 |
2022 |
10 |
Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia.
62
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Ke Q...Cheng X
|
36050252 |
2022 |
11 |
Acute myotonic reaction during succinylcholine anaesthesia.
62
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Mohammed SR...Panday A
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36192135 |
2022 |
12 |
[On the Conceptual History of Myotonia Congenita: The Contributions of Julius Thomsen and Adolph Seeligmüller].
62
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Arendt C...Zierz S
|
34448176 |
2022 |
13 |
Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.
62
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Oliwa A...Scottish Myotonic Dystrophy Consortium
|
36207221 |
2022 |
14 |
Remote assessment of myotonic dystrophy type 1: A feasibility study.
62
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Hamel J...Thornton CA
|
35426155 |
2022 |
15 |
Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.
62
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Fullam TR...CINCH Consortium
|
35644941 |
2022 |
16 |
Clinical Features and Management of Seizure After Percutaneous Endoscopic Spine Surgery: A Retrospective Case Series Analysis.
62
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Zhang Y...Li Y
|
36041725 |
2022 |
17 |
[Rhabdomyolysis - the chamaeleon of the intensive care unit].
62
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Gaik C...Arndt C
|
35896388 |
2022 |
18 |
Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.
62
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Meng YX...Zhang J
|
35866763 |
2022 |
19 |
Correction: Grip myotonia.
62
|
|
35798500 |
2022 |
20 |
The effect of methocarbamol and mexiletine on murine muscle spindle function.
62
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Watkins B...Kroger S
|
35373353 |
2022 |
21 |
Myotonic dystrophy type 1 presenting with dyspnea: A case report.
62
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Jia YX...Li P
|
36051128 |
2022 |
22 |
A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.
62
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Woelfel C...Olby NJ
|
35815860 |
2022 |
23 |
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
62
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Lace B...Inashkina I
|
36381256 |
2022 |
24 |
Predictors of participation restriction over a 9-year period in adults with myotonic dystrophy type 1.
62
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Raymond K...Gagnon C
|
33135946 |
2022 |
25 |
Cutaneous findings in myotonic dystrophy.
62
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Kong HE...Pollack BP
|
35243403 |
2022 |
26 |
[Myotonia-rectified bone-conducted vibration vestibular evoked myogenic potential in normal adults].
62
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Shen J...Yang J
|
35822357 |
2022 |
27 |
An unusual mutation in myotonia congenita.
62
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Chien SC...Su YJ
|
33531161 |
2022 |
28 |
Late sodium current: incomplete inactivation triggers seizures, myotonias, arrhythmias, and pain syndromes.
62
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Fouda MA...Ruben PC
|
35436004 |
2022 |
29 |
Excitability properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles.
62
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Suetterlin KJ...Tan SV
|
35339342 |
2022 |
30 |
Development of high-affinity nanobodies specific for NaV1.4 and NaV1.5 voltage-gated sodium channel isoforms.
62
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Srinivasan L...Gabelli SB
|
35202650 |
2022 |
31 |
Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophy.
62
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Bulea TC...Mankodi A
|
35305880 |
2022 |
32 |
External Ophthalmoplegia and Brainstem White Matter Lesions: Presentation of Myotonic Dystrophy Type 1.
62
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Igreja L...Santos E
|
35442941 |
2022 |
33 |
Laparoscopic cholecystectomy under total intravenous anaesthesia in a patient with myotonic dystrophy type 1 (Steinert's disease) - a case report.
62
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Karras G...Kiamiloglou B
|
35851789 |
2022 |
34 |
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
62
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Suetterlin K...Mannikko R
|
34529042 |
2022 |
35 |
A rare case report of severe cardiomyopathy associated with myotonic dystrophy type 2.
62
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Touma AM...Kamdar F
|
35350724 |
2022 |
36 |
Proof of concept of peptide-linked blockmiR-induced MBNL functional rescue in myotonic dystrophy type 1 mouse model.
62
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Overby SJ...Artero R
|
35282418 |
2022 |
37 |
Targeting Myotonic Dystrophy Type 1 with Metformin.
62
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Garcia-Puga M...Lopez de Munain A
|
35270043 |
2022 |
38 |
Myotonia in MuSK Myasthenia Gravis: A Unique Electrodiagnostic Finding.
62
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Skolka MP...Laughlin RS
|
35188919 |
2022 |
39 |
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
62
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Orlov IE...Suspitsin EN
|
35026467 |
2022 |
40 |
Speech and language abnormalities in myotonic dystrophy: An overview.
62
|
Hanoun S...Ghasemi M
|
34789418 |
2022 |
41 |
Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1.
62
|
Fujino H...Matsumura T
|
35164706 |
2022 |
42 |
Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene.
62
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Al-Harbi TM...Hakonarson H
|
34636138 |
2022 |
43 |
Static Postural Control Deficits in Adults with Myotonic Dystrophy Type 1, Steinert Disease.
62
|
Parent A...Pouliot-Laforte A
|
35001896 |
2022 |
44 |
Identification of DAPK1 as an autophagy-related biomarker for myotonic dystrophy type 1.
62
|
Hu M...Li G
|
36338967 |
2022 |
45 |
Sigmoid Volvulus in Myotonic Dystrophy Type I (Steinert Disease).
62
|
Bayoumy AB...Tushuizen ME
|
35528770 |
2022 |
46 |
Nuclear Envelope Alterations in Myotonic Dystrophy Type 1 Patient-Derived Fibroblasts.
62
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Viegas D...Rebelo S
|
35008948 |
2022 |
47 |
Characteristics of myotonic dystrophy patients in the national registry of Japan.
62
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Sugimoto M...Takahashi MP
|
34923335 |
2022 |
48 |
Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.
62
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Liao Q...Huang K
|
35483324 |
2022 |
49 |
Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing.
62
|
Franck S...Sermon KD
|
35019138 |
2022 |
50 |
Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.
62
|
Nan H...Wu L
|
34996390 |
2022 |