List of works - Susana Teijeira

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease

scientific article published on 01 July 2004

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

scientific article published in February 2011

A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease

scientific article published on 01 February 2000

Acute necrotizing encephalopathy of childhood: report of a Spanish case

article

Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle.

scientific article published on 01 May 1999

Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family

scientific article published on 01 December 2004

Characterisation of Lafora-like bodies and other polyglucosan bodies in two aged dogs with neurological disease.

scientific article

Chloroquine-induced myopathy

scientific article published on 07 February 2011

Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II.

scientific article

Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients

scientific article published on 01 December 2000

Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients

scientific article published on 07 February 2006

Gene symbol: LAMP2. Disease: Glycogen storage disease 2b.

scientific article

Gene symbol: PYGM. Disease: McArdle disease

scientific article published on 01 October 2008

Gene symbol: PYGM. Disease: McArdle disease

scientific article published in October 2008

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

scientific article

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

scientific article published in February 2002

Isolated progressive muscle weakness with tubular aggregates

scientific article published on 01 January 1998

Miliary brain metastases presenting as rapidly progressive dementia.

scientific article published in June 2005

Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations ⬇️

scientific article published on July 29, 2011

Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies ⬇️

scientific article published on November 1, 2009

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study

scientific article published on 01 November 2001

Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.

scientific article published in March 2009

Neuromuscular disorders in the Gypsy ethnic group. A short review.

scientific article

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

scientific article published on 01 January 2010

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

scientific article published on 01 April 2009

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

scientific article

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

scientific article published in April 2009

Shrinking lung syndrome caused by lupus myopathy ⬇️

scientific article published on October 8, 2010

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.

scientific article published on 28 December 2015

Subsarcolemmal expression of utrophin in neuromuscular disorders: an immunohistochemical study of 80 cases

scientific article published on 01 November 1998

Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy

scientific article published on April 2003

[Dystrophinopathies: concept and diagnostic methodology]

scientific article published on 01 May 1994

[Limb-girdle dystrophy]

scientific article published on 01 August 1999

[Myopathology. New concept. New laboratory]

scientific article published on 01 May 2004

List of works by Susana Teijeira

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease

Acute necrotizing encephalopathy of childhood: report of a Spanish case

Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle.

Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family

Characterisation of Lafora-like bodies and other polyglucosan bodies in two aged dogs with neurological disease.

Chloroquine-induced myopathy

Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II.

Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients

Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients

Gene symbol: LAMP2. Disease: Glycogen storage disease 2b.

Gene symbol: PYGM. Disease: McArdle disease

Gene symbol: PYGM. Disease: McArdle disease

Gene symbol: PYGM. Disease: McArdle disease

Gene symbol: PYGM. Disease: McArdle disease

Gene symbol: PYGM. Disease: McArdle disease

Gene symbol: PYGM. Disease: McArdle disease

Gene symbol: PYGM. Disease: McArdle disease

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

Isolated progressive muscle weakness with tubular aggregates

Miliary brain metastases presenting as rapidly progressive dementia.

Molecular and clinical study of McArdle’s disease in a cohort of 123 European patients. Identification of 20 novel mutations ⬇️

Molecular diagnosis of muscular dystrophies, focused on limb girdle muscular dystrophies ⬇️

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study

Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.

Neuromuscular disorders in the Gypsy ethnic group. A short review.

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Shrinking lung syndrome caused by lupus myopathy ⬇️

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up.

Subsarcolemmal expression of utrophin in neuromuscular disorders: an immunohistochemical study of 80 cases

Unusual clinical findings and Complex III deficiency in a family with myotonic dystrophy

[Dystrophinopathies: concept and diagnostic methodology]

[Limb-girdle dystrophy]

[Myopathology. New concept. New laboratory]