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8 in total

1. Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.

Authors: K A Brown; L I al-Gazali; L M Moynihan; N J Lench; A F Markham; R F Mueller
Journal: J Med Genet Date: 1997-08 Impact factor: 6.318

Review 2. Myotonia--a different point of view.

Authors: W K Engel
Journal: Calif Med Date: 1971-02

3. Familial progressive external ophthalmoplegia with multisystem abnormalities: "new" features raising nosological problems.

Authors: R Cantello; L Bergamini; W Troni; A Riccio; I Chiado; L Palmucci; M de Marchi
Journal: J Neurol Date: 1985 Impact factor: 4.849

4. Schwartz-Jampel syndrome in two daughters of first cousins.

Authors: L Pavone; F Mollica; A Grasso; A Cao; F Gullotta
Journal: J Neurol Neurosurg Psychiatry Date: 1978-02 Impact factor: 10.154

5. Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.

Authors: Eri Arikawa-Hirasawa; Alexander H Le; Ichizo Nishino; Ikuya Nonaka; Nicola C Ho; Clair A Francomano; Prasanthi Govindraj; John R Hassell; Joseph M Devaney; Jürgen Spranger; Roger E Stevenson; Susan Iannaccone; Marinos C Dalakas; Yoshihiko Yamada
Journal: Am J Hum Genet Date: 2002-04-08 Impact factor: 11.025

6. Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.

Authors: A Richieri-Costa; S M Garcia da Silva; O Frota-Pessoa
Journal: J Med Genet Date: 1984-04 Impact factor: 6.318

7. The Marden-Walker syndrome.

Authors: C R King; E Magenis
Journal: J Med Genet Date: 1978-10 Impact factor: 6.318

8. A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.

Authors: Marie Bangratz; Nadège Sarrazin; Jérôme Devaux; Désirée Zambroni; Andoni Echaniz-Laguna; Frédérique René; Delphine Boërio; Claire-Sophie Davoine; Bertrand Fontaine; Maria Laura Feltri; Evelyne Benoit; Sophie Nicole
Journal: Am J Pathol Date: 2012-03-23 Impact factor: 4.307

8 in total