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Results: 1 to 20 of 101

Similar articles for PubMed (Select 11260644)

1.

Pathologic quiz case: Male infant with generalized hypotonia and absence of respirations at birth,.

Kelly NA, Thomas C.

Arch Pathol Lab Med. 2001 Apr;125(4):575-6. No abstract available.

PMID:
11260644
2.

Monocrural flaccid paralysis following asthmatic attack (post asthmatic amyotrophy) - case report & minireview.

Kumar P, Kumar P, RY K.

Clin Neurol Neurosurg. 2014 Aug;123:1-3. doi: 10.1016/j.clineuro.2014.04.031. Epub 2014 May 10. Review. No abstract available.

PMID:
25012002
3.

Clinical and skeletal muscle biopsy characteristics of 25 patients with floppy infant syndrome.

Bing Q, Hu J, Li N, Shen HR, Zhao Z.

Clin Neuropathol. 2013 Nov-Dec;32(6):471-9. doi: 10.5414/NP300598.

PMID:
23743156
4.

Finding the way into the brain without MCT8.

Visser WE, Visser TJ.

J Clin Endocrinol Metab. 2012 Dec;97(12):4362-5. doi: 10.1210/jc.2012-3759. No abstract available.

PMID:
23223483
5.

Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies.

Taratuto AL, Akman HO, Saccoliti M, Riudavets M, Arakaki N, Mesa L, Sevlever G, Goebel H, DiMauro S.

Neuromuscul Disord. 2010 Dec;20(12):783-90. doi: 10.1016/j.nmd.2010.07.275. Epub 2010 Sep 15.

PMID:
20833045
6.

Neuromuscular pathology unknown.

Kraker JB, Abdel-Hamid H, Lacomis D.

J Clin Neuromuscul Dis. 2010 Sep;12(1):22-5. doi: 10.1097/CND.0b013e3181dc34d8. Review. No abstract available.

PMID:
20808160
7.

I-Z-I complexes in congenital myopathy.

Rhodes RH, Sharer LR.

Muscle Nerve. 2010 May;41(5):715-23. doi: 10.1002/mus.21575.

PMID:
20229580
8.

[Clinical and pathologic analysis of an autosomal recessive kindred with nemaline myopathy].

Jiang H, Xiao B, Jia DD, Zhang N, Xu XP, Tang BS.

Zhonghua Yi Xue Za Zhi. 2009 Dec 22;89(47):3316-9. Chinese.

PMID:
20193557
9.

[Fast progressive development of marked hypotonia].

Rute-Ferreira A, Marta R, Rocha S, Didelet C, Gonçalves-Rodrigues E.

Rev Neurol. 2009 Dec 1-15;49(11):612-3. Spanish. No abstract available.

10.

First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia.

Monnier N, Laquerrière A, Marret S, Goldenberg A, Marty I, Nivoche Y, Lunardi J.

Neuromuscul Disord. 2009 Oct;19(10):680-4. doi: 10.1016/j.nmd.2009.07.007. Epub 2009 Sep 5.

PMID:
19734047
11.

The value of electromyography in the aetiological diagnosis of hypotonia in infants and toddlers.

Cetin E, Cuisset JM, Tiffreau V, Vallée L, Hurtevent JF, Thevenon A.

Ann Phys Rehabil Med. 2009 Sep-Oct;52(7-8):546-55. doi: 10.1016/j.rehab.2009.06.004. Epub 2009 Aug 18. English, French.

12.

Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele.

Garcia-Angarita N, Kirschner J, Heiliger M, Thirion C, Walter MC, Schnittfeld-Acarlioglu S, Albrecht M, Müller K, Wieczorek D, Lochmüller H, Krause S.

Neuromuscul Disord. 2009 Jul;19(7):481-4. doi: 10.1016/j.nmd.2009.05.001. Epub 2009 Jun 23.

PMID:
19553116
13.

[Adult-onset nemaline myopathy with distal muscle atrophy--case report].

Niwa F, Shiga K, Kimura M, Yamaguchi T, Kondo M, Nakagawa M.

Brain Nerve. 2009 Jun;61(6):695-9. Review. Japanese.

PMID:
19526838
14.

[Sporadic adult form of nemaline myopathy--a difficult differential diagnosis].

Klarl BA, Bornemann A, Demuth K, Zähringer M, Lindner A.

Fortschr Neurol Psychiatr. 2009 Mar;77(3):166-8. doi: 10.1055/s-0028-1109125. Epub 2009 Mar 12. German.

PMID:
19283652
15.

Idiopathic adult-onset nemaline myopathy presenting with isolated respiratory failure.

Whitaker J, Love S, Williams AP, Plummeridge M.

Muscle Nerve. 2009 Mar;39(3):406-8. doi: 10.1002/mus.21234.

PMID:
19208402
16.

Congenital myopathies: a clinicopathological study of 25 cases.

Jain D, Sharma MC, Sarkar C, Gulati S, Kalra V, Singh S, Bhatia R.

Indian J Pathol Microbiol. 2008 Oct-Dec;51(4):474-80.

17.

Utility of fetal muscle biopsy for diagnosis of nemaline myopathy.

Kasperski SB, Brennan AM, Corteville JE, Finkel RS, Golden J, Johnson MP, Wilson RD.

Fetal Diagn Ther. 2008;24(4):400-4. doi: 10.1159/000170095. Epub 2008 Nov 6.

PMID:
18987477
18.

Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H).

Koy A, Ilkovski B, Laing N, North K, Weis J, Neuen-Jacob E, Mayatepek E, Voit T.

Neuropediatrics. 2007 Dec;38(6):282-6. doi: 10.1055/s-2008-1065356.

PMID:
18461503
19.

Teaching NeuroImage: Axial muscle atrophy in adult-onset Pompe disease.

Katirji B, Kesner V, Hejal RB, Alshekhlee A.

Neurology. 2008 Mar 4;70(10):e36. doi: 10.1212/01.wnl.0000304251.98684.69. No abstract available.

PMID:
18316684
20.

A newborn girl with hypotonia and respiratory failure.

Charrow J.

Pediatr Ann. 2007 Dec;36(12):777, 781-2. No abstract available.

PMID:
18229518
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