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Title: CHONDRODYSTROPHIC MYOTONIA - REPORT OF 2 CASES - MYOTONIA, DWARFISM, DIFFUSE BONE DISEASE, AND UNUSUAL OCULAR AND FACIAL ABNORMALITIES
Author(s): ABERFELD, DC
Source: ARCHIVES OF NEUROLOGY Volume: 22 Issue: 5 Pages: 455-& Published: 1970
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1. Title: ELECTROPHYSIOLOGICAL STUDIES IN A MOUSE MODEL OF SCHWARTZ-JAMPEL SYNDROME DEMONSTRATE MUSCLE FIBER HYPERACTIVITY OF PERIPHERAL NERVE ORIGIN
Author(s): Echaniz-Laguna A, Rene F, Marcel C, et al.
Source: MUSCLE & NERVE   Volume: 40   Issue: 1   Pages: 55-61   Published: JUL 2009
2. Title: Botulinum Toxin A Injections for the Treatment of Schwartz-Jampel Syndrome: A Case Series
Author(s): Aburahma SK, Al-Khateeb T, Alrefai A, et al.
Source: JOURNAL OF CHILD NEUROLOGY   Volume: 24   Issue: 1   Pages: 5-8   Published: JAN 2009
3. Title: Results of botilinum toxin: An application to blepharospasm in Schwartz-Jampel syndrome
Author(s): Vargel I, Canter HI, Topaloglu H, et al.
Source: JOURNAL OF CRANIOFACIAL SURGERY   Volume: 17   Issue: 4   Pages: 656-660   Published: JUL 2006
4. Title: Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia
Author(s): Arikawa-Hirasawa E, Le AH, Nishino I, et al.
Source: AMERICAN JOURNAL OF HUMAN GENETICS   Volume: 70   Issue: 5   Pages: 1368-1375   Published: MAY 2002
5. Title: Levator aponeurosis surgery in Schwartz-Jampel syndrome
Author(s): Cruz AAV, Souza CA, Plastino LS
Source: OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY   Volume: 14   Issue: 4   Pages: 271-276   Published: JUL 1998
6. Title: The Schwartz-Jampel syndrome. A minireview
Author(s): Berardinelli A, Ginevra OF, Lanzi G
Source: BASIC AND APPLIED MYOLOGY   Volume: 7   Issue: 6   Pages: 363-367   Published: 1997
7. Title: Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1
Author(s): Brown KA, AlGazali LI, Moynihan LM, et al.
Source: JOURNAL OF MEDICAL GENETICS   Volume: 34   Issue: 8   Pages: 685-687   Published: AUG 1997
8. Title: THE SKELETAL-MUSCLE SODIUM AND CHLORIDE CHANNEL DISEASES
Author(s): HUDSON AJ, EBERS GC, BULMAN DE
Source: BRAIN   Volume: 118   Pages: 547-563   Part: Part 2   Published: APR 1995
9. Title: SCHWARTZ-JAMPEL SYNDROME
Author(s): PASCUZZI RM
Source: SEMINARS IN NEUROLOGY   Volume: 11   Issue: 3   Pages: 267-273   Published: SEP 1991
10. Title: MODIFICATION IN THE EXPRESSION AND LOCALIZATION OF CONTRACTILE AND CYTOSKELETAL PROTEINS IN SCHWARTZ-JAMPEL SYNDROME
Author(s): SOUSSIYANICOSTAS N, BENHAMIDA C, BUTLERBROWNE GS, et al.
Source: JOURNAL OF THE NEUROLOGICAL SCIENCES   Volume: 104   Issue: 1   Pages: 64-73   Published: JUL 1991