• <em>MYL2</em>-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing
• A benign congenital myopathy in an inbred Samaritan family
• A large inbred Palestinian family with two forms of muscular dystrophy
• A phenotype map for 14q32.3 terminal deletions
• A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
• A syndrome of benign congenital hypotonia, gross obesity, delayed intellectual development, retarded bone age, and unusual facies
• Acinic cell carcinoma of the parotid in children
• Adenosine kinase deficiency with neurodevelopemental delay and recurrent hepatic dysfunction: A case report
• Assigning pathogenicity for TAB2 variants using a novel scalable functional assay and expanding TAB2 disease spectrum
• Autosomal Trisomies and Partial Trisomy Syndromes: (With Presentation of Two Cases of Partial Trisomy for the E Group of Chromosomes)
• BENIGN congenital hypotonia
• Benign congenital hypotonia
• Benign congenital hypotonia
• Benign congenital hypotonia is not a diagnosis
• Benign congenital hypotonia with chromosomal anomaly
• Benign congenital hypotonia with uniform type 1 fibers and aspecific ultrastructural changes in the muscle: a case with esophagus involvement
• Benign congenital hypotonia: a disease or syndrome?
• Benign congenital hypotonia. A clinical study in 43 children
• Benign congenital hypotonia. A syndrome or a disease
• Benign congenital muscular dystrophy: a special form of congenital hypotonia
• Benign congenital myopathy associated with a partial deficiency of complexes I and III of the mitochondrial respiratory chain]
• Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene
• Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
• Broad A band disease: a new benign congenital myopathy
• Carbamazepine and vigabatrin in epileptic pregnant woman and side effects in the newborn infant
• Case report: A novel <em>ACTA1</em> variant in a patient with nemaline rods and increased glycogen deposition
• Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia
• CONGENITAL BENIGN MUSCULAR HYPOTONIA AND THE SYNDROME OF MOEBIUS. AN OBSERVATION WITH STUDIES OF THE ELECTROMYOGRAPHIC REFLECTIVITY AND MUSCULAR BIOPSY
• Congenital fiber disproportion: atrophy of type I fibers. Report of 11 cases
• Congenital hypotonia is not benign. Early recognition and intervention is the key to recovery
• Congenital hypotonia with favorable outcome
• Congenital muscular dystrophy and epilepsy: a prospective case series of pediatric patients
• Congenital muscular dystrophy with leukoencephalopathy
• Delay in the maturation of muscle fibers in infants with congenital hypotonia
• Developmental correlates of school-age children with a history of benign congenital hypotonia
• Early onset adhalinopathy (LGMD2D) mimicking congenital muscular dystrophy
• Familial benign congenital hypotonia
• Familial KANK1 deletion that does not follow expected imprinting pattern
• Further remarks on histochemistry applied to myodiagnosis: findings of "type predominance" (author's transl)
• Giant intracranial congenital hemangiopericytoma/solitary fibrous tumor: A case report and literature review
• Growth hormone deficiency in a child with benign hereditary chorea caused by a <em>de novo</em> mutation of the TITF1/NKX2-1 gene
• Growth hormone deficiency in a child with benign hereditary chorea caused by a de novo mutation of the TITF1/NKX2-1 gene
• Hereditary benign congenital hypotonia. Cnsiderations on a case
• Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review
• Hypotonia, congenital hearing loss, and hypoactive labyrinths
• Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome
• Intrapartum temperature elevation, epidural use, and adverse outcome in term infants
• Isolated glycerol kinase deficiency in a neonate
• Merosin-positive congenital muscular dystrophy: a large inbred family
• Morphology of intramuscular axonal endings in 2 cases of Walton's benign congenital hypotonia
• Multi-minicore disease revisited
• Multicore myopathy, microcephaly, aganglionosis, and short stature
• Mutation in the AGK gene in two siblings with unusual Sengers syndrome
• MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing
• Nemaline myopathy: clinical, histochemical and immunohistochemical features
• Neonatal hypotonias with congenital disproportion of various types of muscular fiber, especially type I fibers. Demonstration of the familial character of this new entity
• Neurological prognosis of floppy infants after health examinations
• Neuromuscular disorders in infancy and childhood
• Posterior instability of the hip in an adult. A case report
• Predictive value of electromyography in diagnosis and prognosis of the hypotonic infant
• Rod myopathy. A fatal neonatal case
• Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation
• Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants
• The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency
• The floppy infant: a practical approach
• The role of electrodiagnostic studies in the diagnosis of hypotonia in infancy
• The significance of hyperpipecolatemia in Zellweger syndrome
• The spectrum of cytoplasmic body myopathy: report of a congenital severe case
• Type 1 fiber size disproportion: morphometric data from 37 children with myopathic, neuropathic, or idiopathic hypotonia
• Unusual presentation of sacrococcygeal teratomas and associated malformations in children: clinical experience and review of the literature
• Zebra body myopathy: a second case of ultrastructurally distinct congenital myopathy