Sort   by:  
 Page size 
UnknownRespiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient.
Not available
S-EPMC7460734 | biostudies-literature
UnknownNeuromuscular forms of glycogen branching enzyme deficiency.
Not available
S-EPMC2949312 | biostudies-literature
UnknownSevere cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene.
Not available
S-EPMC4766941 | biostudies-literature
UnknownRecurrent <i>CAPN3</i> p.Asp753Asn Variant Supports a Potential Dominant Calpainopathy with Variable Clinical Expressivity.
Not available
S-EPMC12692566 | biostudies-literature
UnknownLate onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.
Not available
S-EPMC5424884 | biostudies-literature
UnknownEvaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study.
Not available
S-EPMC7720139 | biostudies-literature
UnknownMyoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.
Not available
S-EPMC4804697 | biostudies-literature
UnknownCCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.
Not available
S-EPMC11394131 | biostudies-literature
UnknownMYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.
Not available
S-EPMC7507101 | biostudies-literature
UnknownNeutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.
Not available
S-EPMC5427600 | biostudies-literature
Sort   by:  
 Page size