Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders

[1]  Bjarne Udd,et al.  229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 , 2018, Neuromuscular Disorders.

[2]  H. Deng,et al.  Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy‐dystroglycanopathy C1 , 2017, Journal of cellular and molecular medicine.

[3]  T. Toda,et al.  Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. , 2016, Molecular aspects of medicine.

[4]  T. Toda,et al.  Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation , 2016, Journal of Human Genetics.

[5]  S. Vuillaumier‐Barrot,et al.  Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein. , 2015, Journal of neuromuscular diseases.

[6]  K. Bushby,et al.  Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy , 2014, Neuromuscular Disorders.

[7]  C. Lam,et al.  Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy. , 2014, European journal of paediatric neurology.

[8]  L. Morandi,et al.  A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation. , 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[9]  S. Frank,et al.  Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations , 2014, Neuromuscular Disorders.

[10]  Jessie H. Conta,et al.  A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations , 2014, Neuromuscular Disorders.

[11]  Eugenio Mercuri,et al.  Muscular dystrophies , 2013, The Lancet.

[12]  L. Wells.  The O-Mannosylation Pathway: Glycosyltransferases and Proteins Implicated in Congenital Muscular Dystrophy* , 2013, The Journal of Biological Chemistry.

[13]  C. Fallet-Bianco,et al.  Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. , 2012, American journal of human genetics.

[14]  Kevin M Flanigan,et al.  The Muscular Dystrophies , 1999, Seminars in Neurology.

[15]  E. Mercuri,et al.  Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001–2008 , 2012, Neuromuscular Disorders.

[16]  C. Hawkins,et al.  Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation , 2012, Muscle & nerve.

[17]  C. Fallet-Bianco,et al.  Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. , 2012, Brain : a journal of neurology.

[18]  P. Vivier,et al.  Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound , 2012, Pediatric Radiology.

[19]  H. van Bokhoven,et al.  Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies , 2010, Neurology.

[20]  G. Sedmak,et al.  POMT1-associated walker-warburg syndrome: a disorder of dendritic development of neocortical neurons. , 2009, Neuropediatrics.

[21]  E. Mercuri,et al.  Brain involvement in muscular dystrophies with defective dystroglycan glycosylation , 2008, Annals of neurology.

[22]  C. Walsh,et al.  Ethnically diverse causes of Walker‐Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East , 2008, Human mutation.

[23]  M. Pane,et al.  POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study , 2008, Neuromuscular Disorders.

[24]  F. Zara,et al.  POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. , 2007, Biochemical and biophysical research communications.

[25]  M Joubert,et al.  Molecular heterogeneity in fetal forms of type II lissencephaly , 2007, Human mutation.

[26]  Susan C. Brown,et al.  Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. , 2007, Brain : a journal of neurology.

[27]  E. Ozer,et al.  A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. , 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[28]  J. Vajsar,et al.  Walker-Warburg syndrome , 2006, Orphanet journal of rare diseases.

[29]  E. Bertini,et al.  The expanding phenotype of POMT1 mutations: from Walker‐Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation , 2006, Human mutation.

[30]  K. Campbell,et al.  Dystroglycan: from biosynthesis to pathogenesis of human disease , 2006, Journal of Cell Science.

[31]  H. Topaloglu,et al.  An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker–Warburg syndrome (WWS) caused by a mutation in the POMT1 gene , 2005, Neuromuscular Disorders.

[32]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..

[33]  C. Walsh,et al.  Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. , 2002, American journal of human genetics.

[34]  M. Bayés,et al.  Clinical and genetic distinction between Walker–Warburg syndrome and muscle–eye–brain disease , 2001, Neurology.

[35]  L B Holmes,et al.  Diagnostic criteria for Walker-Warburg syndrome. , 1989, American journal of medical genetics.