Defining alpha-skeletal and alpha-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathyHypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African familyThe DUX4 gene at the FSHD1A locus encodes a pro-apoptotic proteinImmunohistochemical analysis of calpain 3: advantages and limitations in diagnosing LGMD2AFurther evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardationMuscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)Commonality amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophyOpening the window: The case for carrier and perinatal screening for spinal muscular atrophyApproach to the diagnosis of congenital myopathies208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26-28 September 2014Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.Nuclear inclusions mimicking poly(A)-binding protein nuclear 1 inclusions in a case of inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia with a novel mutation in the valosin-containing protein geneCharacterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patientsSevere gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletionMyoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patientDecreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathyThe Fukuyama congenital muscular dystrophy storyEmery-Dreifuss muscular dystrophy - a 40 year retrospectiveVariability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 geneMolecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian populationDeficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathyAtypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA geneMelas: an original case and clinical criteria for diagnosisA novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegiaCognitive functions in Duchenne muscular dystrophy: a reappraisal and comparison with spinal muscular atrophyIntelligence and cognitive function in children and adolescents with spinal muscular atrophyMutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathyIdentification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth diseaseA G468-T AMPD1 mutant allele contributes to the high incidence of myoadenylate deaminase deficiency in the Caucasian populationMerosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patientsDystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian womanETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiencyIntracellular detection of laminin alpha 2 chain in skin by electron microscopy immunocytochemistry: comparison between normal and laminin alpha 2 chain deficient subjectsParamyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotypeMolecular genetics of facioscapulohumeral muscular dystrophy (FSHD)An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on managementCap disease due to mutation of the beta-tropomyosin gene (TPM2)Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin beta 1?
P1433
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P1433
description
Wissenschaftliche Fachzeitschrift
@de
journal
@en
revista científica
@es
revue scientifique
@fr
rivista scientifica
@it
vědecký časopis
@cs
wetenschappelijk tijdschrift van Elsevier
@nl
مجلة
@ar
वैज्ञानिक पत्रिका
@hi
英语期刊
@zh
name
Neuromuscular Disorders
@ast
Neuromuscular Disorders
@da
Neuromuscular Disorders
@de
Neuromuscular Disorders
@en
Neuromuscular Disorders
@es
Neuromuscular Disorders
@fi
Neuromuscular Disorders
@fr
Neuromuscular Disorders
@it
Neuromuscular Disorders
@nb
Neuromuscular Disorders
@nl
type
label
Neuromuscular Disorders
@ast
Neuromuscular Disorders
@da
Neuromuscular Disorders
@de
Neuromuscular Disorders
@en
Neuromuscular Disorders
@es
Neuromuscular Disorders
@fi
Neuromuscular Disorders
@fr
Neuromuscular Disorders
@it
Neuromuscular Disorders
@nb
Neuromuscular Disorders
@nl
prefLabel
Neuromuscular Disorders
@ast
Neuromuscular Disorders
@da
Neuromuscular Disorders
@de
Neuromuscular Disorders
@en
Neuromuscular Disorders
@es
Neuromuscular Disorders
@fi
Neuromuscular Disorders
@fr
Neuromuscular Disorders
@it
Neuromuscular Disorders
@nb
Neuromuscular Disorders
@nl
P243
P3181
P4616
P1055
P1058
P1156
P1159
P1160
Neuromuscul. Disord.
P123
P1277
P1476
Neuromuscular Disorders
@en
P236
P243
P3181
P407
P495
P571
1991-01-01T00:00:00Z