Pages that link to "Q48355720"

The following pages link to FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts (Q48355720):

Displaying 47 items.

• Mutations alter secretion of fukutin-related protein (Q24315761) (← links)
• A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity (Q24321993) (← links)
• Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy (Q28268625) (← links)
• Glycosylation defects: a new mechanism for muscular dystrophy? (Q28587952) (← links)
• Brain involvement in muscular dystrophies with defective dystroglycan glycosylation (Q33391488) (← links)
• The dystroglycanopathies: the new disorders of O-linked glycosylation (Q33813487) (← links)
• The 10 autosomal recessive limb-girdle muscular dystrophies (Q35201105) (← links)
• Muscular dystrophy overview: genetics and diagnosis (Q35638579) (← links)
• Glyc-O-genetics of Walker-Warburg syndrome (Q36055607) (← links)
• Muscle function and dysfunction in health and disease (Q36269354) (← links)
• New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families (Q36462720) (← links)
• Mechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage (Q36577280) (← links)
• Molecular mechanisms of muscular dystrophies: old and new players (Q36593241) (← links)
• The congenital muscular dystrophies: recent advances and molecular insights (Q36681282) (← links)
• Muscle protein alterations in LGMD2I patients with different mutations in the Fukutin-related protein gene (Q36942490) (← links)
• Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats. (Q37105883) (← links)
• Muscular dystrophies due to defective glycosylation of dystroglycan (Q37223736) (← links)
• Adeno-associated virus 9 mediated FKRP gene therapy restores functional glycosylation of α-dystroglycan and improves muscle functions (Q37254859) (← links)
• Dystroglycan glycosylation and muscular dystrophy. (Q37261423) (← links)
• The neurobiology of the dystrophin-associated glycoprotein complex. (Q37378530) (← links)
• Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects (Q37426320) (← links)
• Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives (Q37528083) (← links)
• Extracellular matrix functions during neuronal migration and lamination in the mammalian central nervous system (Q37899107) (← links)
• The ever-expanding spectrum of congenital muscular dystrophies (Q38029277) (← links)
• Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain (Q38574273) (← links)
• B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I. (Q39453819) (← links)
• Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo (Q40122746) (← links)
• Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? (Q46160898) (← links)
• Molecular heterogeneity in fetal forms of type II lissencephaly. (Q48142018) (← links)
• Merosin-positive congenital muscular dystrophy: neuroimaging findings (Q48209872) (← links)
• 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). (Q48225211) (← links)
• A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. (Q48270083) (← links)
• FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies (Q48613716) (← links)
• Neuromuscular disorders associated with cerebral malformations (Q48914593) (← links)
• Lissencephaly type II. (Q48914638) (← links)
• Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I. (Q50645413) (← links)
• Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes (Q51065374) (← links)
• Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells (Q51935097) (← links)
• Inferring the effect of genomic variation in the new era of genomics. (Q52327024) (← links)
• Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo- mouse model of FKRP-deficient muscular dystrophy. (Q52602020) (← links)
• Malformations of cortical development and epilepsy (Q56770849) (← links)
• Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I (Q57642759) (← links)
• Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum (Q58052175) (← links)
• [The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene] (Q80250258) (← links)
• Myopathies with early contractures (Q82029853) (← links)
• Functional and cellular localization diversity associated with Fukutin-related protein patient genetic variants (Q91575256) (← links)
• Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy (Q92711724) (← links)