Literatur
-
1
Prasad A N, Prasad C.
Genetic evaluation of the floppy infant.
Semin Fetal Neonatal Med.
2011;
16(2)
99-108
-
2
Bodensteiner J B.
The evaluation of the hypotonic infant.
Semin Pediatr Neurol.
2008;
15(1)
10-20
-
3 P Duus . Duus' neurologisch topische Diagnostik.. Stuttgart: Thieme; 2003: 13-15
-
4 Dubowitz V. Muscle Disorders in Childhood.. London: W.B. Saunders Ltd; 1995: 457-472
-
5
Laugel V et al.
Diagnostic approach to neonatal hypotonia: retrospective
study on 144 neonates.
Eur J Pediatr.
2008;
167(5)
517-523
-
6
Lisi E C, Cohn R D.
Genetic evaluation of the pediatric patient with hypotonia:
perspective from a hypotonia specialty clinic and review of the
literature.
Dev Med Child Neurol.
2011;
53(7)
586-599
-
7
Vasta I et al.
Can clinical signs identify newborns with neuromuscular
disorders?.
J Pediatr.
2005;
146(1)
73-79
-
8
Steinlin M, Zangger B, Boltshauser E.
Non-progressive congenital ataxia with or without cerebellar
hypoplasia: a review of 34 subjects.
Dev Med Child Neurol.
1998;
40(3)
148-154
-
9
McSweeney N et al.
Perinatal dyskinesia as a presenting feature in
Prader-Willi-Syndrome.
Eur J Paediatr Neurol.
2009;
13(4)
350-355
-
10
Lorenzo J et al.
Mental, motor, and language development of toddlers with
neurofibromatosis type 1.
J Pediatr.
2011;
158(4)
660-665
-
11
Korman S H, Gutman A.
Pitfalls in the diagnosis of glycine encephalopathy
(non-ketotic hyperglycinemia).
Dev Med Child Neurol.
2002;
44(10)
712-720
-
12
Liang W C, Nishino I.
Lipid storage myopathy.
Curr Neurol Neurosci Rep.
2011;
11(1)
97-103
-
13
Kostova F V et al.
Spinal muscular atrophy: classification, diagnosis,
management, pathogenesis, and future research directions.
J Child Neurol.
2007;
22(8)
926-945
-
14
Grohmann K et al.
Infantile spinal muscular atrophy with respiratory distress
type 1 (SMARD1).
Ann Neurol.
2003;
54(6)
719-724
-
15
Clement E et al.
Brain involvement in muscular dystrophies with defective
dystroglycan glycosylation.
Ann Neurol.
2008;
64(5)
573-582
-
16
Klein A et al.
Differential diagnosis of congenital muscular
dystrophies.
Eur J Paediatr Neurol.
2008;
12(5)
371-377
-
17
Wilmshurst J M et al.
Peripheral neuropathies of infancy.
Dev Med Child Neurol.
2003;
45(6)
408-414
-
18
Spillane J, Beeson D J, Kullmann D M.
Myasthenia and related disorders of the neuromuscular
junction.
J Neurol Neurosurg Psychiatry.
;
81(8)
850-857
-
19
Beighton P Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos
Support Group (UK) et al..
Ehlers-Danlos syndromes: revised nosology. Villefranche
1997.
Am J Med Genet.
1998;
77(1)
31-37
-
20
Loeys B L et al.
Aneurysm syndromes caused by mutations in the TGF-beta
receptor.
N Engl J Med.
2006;
355(8)
788-798
-
21
Paro-Panjan D, Neubauer D.
Congenital hypotonia: is there an algorithm?.
J Child Neurol.
2004;
19(6)
439-442
Dr. med. Andrea Klein
Abteilung
Neuropädiatrie
Universitäts-Kinderkliniken
Zürich
Steinwiesstr. 75
CH-8032 Zürich
Phone: 0041/442667-330
Fax: 0041/442667-163
Email: andrea.klein@kispi.uzh.ch
