| 1 |
Congenital Nemaline Myopathy with Dense Protein Masses.
62
|
Bevilacqua JA...Romero NB
|
35139532 |
2022 |
| 2 |
Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings.
62
|
Zambon AA...Muntoni F
|
35249790 |
2022 |
| 3 |
Association of fingerprint bodies with rods in a case with mutations in the LMOD3 gene.
62
|
Marguet F...Laquerriere A
|
32008911 |
2020 |
| 4 |
[Clinical features and gene mutation analysis of severe congenital nemaline myopathy in one neonate].
62
|
Hu XW...Gao JM
|
31104670 |
2019 |
| 5 |
Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria.
62
|
Schatz UA...Baumann M
|
30291184 |
2018 |
| 6 |
A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult.
62
|
Kao JC...Milone M
|
29731279 |
2018 |
| 7 |
Deep Brain Stimulation in Rare Inherited Dystonias.
62
|
Beaulieu-Boire I...Moro E
|
27743838 |
2016 |
| 8 |
Two cases of sporadic late onset nemaline myopathy effectively treated with immunotherapy.
62
|
Mizuno Y...Murata M
|
27580764 |
2016 |
| 9 |
The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy.
62
|
Yang L...Cai T
|
27357517 |
2016 |
| 10 |
Congenital Nemaline Myopathy: The Value of Magnetic Resonance Imaging of Muscle.
62
|
Ennis J...McMillan HJ
|
26348902 |
2015 |
| 11 |
Two novel nebulin variants in an adult patient with congenital nemaline myopathy.
62
|
Guttsches AK...Vorgerd M
|
25740301 |
2015 |
| 12 |
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.
62
|
Waisayarat J...Rochanawutanon M
|
25890230 |
2015 |
| 13 |
Sudden cardiac arrest in a child with nemaline myopathy.
62
|
Marseglia L...Gitto E
|
25888334 |
2015 |
| 14 |
Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.
62
|
Castiglioni C...Bevilacqua JA
|
25088345 |
2014 |
| 15 |
A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations.
62
|
Levesque L...Mhanni AA
|
23305948 |
2013 |
| 16 |
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
62
|
Kondo E...Saito K
|
22407809 |
2012 |
| 17 |
A case of nemaline myopathy with associated dilated cardiomyopathy and respiratory failure.
62
|
Nagata R...Shimizu M
|
22188717 |
2011 |
| 18 |
Reduced thin filament length in nebulin-knockout skeletal muscle alters isometric contractile properties.
62
|
Gokhin DS...Lieber RL
|
19295172 |
2009 |
| 19 |
An infant with congenital nemaline myopathy and hypertrophic cardiomyopathy.
62
|
Nakajima M...Fukunaga Y
|
19155574 |
2008 |
| 20 |
Functional effects of nemaline myopathy mutations on human skeletal alpha-actin.
62
|
Miller BM...Trybus KM
|
18477565 |
2008 |
| 21 |
[An autopsy case of dilated cardiomyopathy associated with congenital nemaline myopathy].
62
|
Take C...Kowa H
|
18323161 |
2008 |
| 22 |
[An adulthood progressive case of congenital nemaline myopathy showing rimmed vacuoles in muscle biopsy and diffuse neurogenic changes on electromyography].
62
|
Ikezoe K...Kira J
|
15384708 |
2004 |
| 23 |
Mutations in the nebulin gene can cause severe congenital nemaline myopathy.
62
|
Wallgren-Pettersson C...Pelin K
|
12207937 |
2002 |
| 24 |
Unusual fatty infiltration of the soleus muscle in a patient with congenital nemaline myopathy: fat-suppression muscle MRI.
62
|
Ikeda K...Nonaka I
|
11929189 |
2002 |
| 25 |
Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.
62
|
Buxmann H...Loewenich V
|
11748499 |
2001 |
| 26 |
Nemaline myopathy: a clinical study of 143 cases.
62
|
Ryan MM...North KN
|
11558787 |
2001 |
| 27 |
[Congenital nemaline myopathy with mitochondrial abnormalities. An adult case report].
62
|
Oya Y...Kawai M
|
11002727 |
2000 |
| 28 |
Nemaline myopathy and cardiomyopathy.
62
|
Skyllouriotis ML...Wimmer M
|
10328285 |
1999 |
| 29 |
[Clinical and pathological studies on nemaline myopathy in adulthood].
62
|
Suzuki Y...Kuroiwa Y
|
10078028 |
1998 |
| 30 |
Distinct light microscopic changes in human immunodeficiency virus-associated nemaline myopathy.
62
|
Feinberg DM...Weidenheim KM
|
9484391 |
1998 |
| 31 |
Severe congenital nemaline myopathy: a personal perspective.
62
|
Marinone K
|
9526359 |
1998 |
| 32 |
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis.
62
|
Wallgren-Pettersson C...Van Langen IM
|
8580725 |
1995 |
| 33 |
Pregnancy and delivery in congenital nemaline myopathy.
62
|
Wallgren-Pettersson C...Paatero H
|
7660780 |
1995 |
| 34 |
Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy.
62
|
Wallgren-Pettersson C...Rapola J
|
7767098 |
1995 |
| 35 |
[Severe and mild forms of nemaline myopathy: a report of three cases].
62
|
Colomer Oferil J...Fernandez-Alvarez E
|
8166407 |
1993 |
| 36 |
A new case of severe congenital nemaline myopathy.
62
|
Buonocore G...Bagnoli F
|
8155933 |
1993 |
| 37 |
Intranuclear rods in severe congenital nemaline myopathy.
62
|
Rifai Z...Griggs RC
|
8232959 |
1993 |
| 38 |
[3 examples of fetal genetic neuromuscular disorders which lead to hydramnion].
62
|
Teeuw AH...Zondervan HA
|
8492834 |
1993 |
| 39 |
Unusual course of nemaline myopathy.
62
|
Hausmanowa-Petrusewicz I...Badurska B
|
1300189 |
1992 |
| 40 |
Minipolymyoclonus in congenital nemaline myopathy: a nonspecific clinical marker of neurogenic dysfunction.
62
|
Colamaria V...Dalla Bernardina B
|
1785661 |
1991 |
| 41 |
Respiratory deterioration during growth hormone therapy in a case of congenital nemaline myopathy.
62
|
Logghe K...Pruijs JE
|
2079082 |
1990 |
| 42 |
[A case of severe infantile form of congenital nemaline myopathy with extensive fatty replacement of the skeletal muscles].
62
|
Shimizu J...Noguchi H
|
2177691 |
1990 |
| 43 |
Genetics of congenital nemaline myopathy: a study of 10 families.
62
|
Wallgren-Pettersson C...Donner M
|
2213842 |
1990 |
| 44 |
[Clinical and pathological studies on two patients with adult-onset nemaline myopathy].
62
|
Maruyama T...Nonaka I
|
2173650 |
1990 |
| 45 |
Alpha-actinin and myosin light chains in congenital nemaline myopathy.
62
|
Wallgren-Pettersson C...Holmberg C
|
2360957 |
1990 |
| 46 |
Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy.
62
|
Wallgren-Pettersson C...Holmberg C
|
2178616 |
1990 |
| 47 |
Congenital nemaline myopathy with dilated cardiomyopathy: an autopsy study.
62
|
Ishibashi-Ueda H...Nonaka I
|
2295510 |
1990 |
| 48 |
Electromyography in congenital nemaline myopathy.
62
|
Wallgren-Pettersson C...Salmi T
|
2674705 |
1989 |
| 49 |
Congenital nemaline myopathy. A clinical follow-up of twelve patients.
62
|
Wallgren-Pettersson C
|
2926439 |
1989 |
| 50 |
Normal cardiac contractility in patients with congenital nemaline myopathy.
62
|
Airenne AL...Wallgren-Pettersson C
|
3221984 |
1988 |
Rare neurological diseases 