Neudle.com: "Werdnig-Hoffman disease"

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newborn, evaluation of

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Onufrowicz nucleus

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Parkinson disease

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placebo

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stiff man syndrome

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term infant

tongue, fasciculations of

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treatment of neurologic disorder

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trinucleotide repeats

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vitamin E deficiency

walking, difficulty with

weakness

weakness, generalized

weakness, infant

weakness, progressive

weaning from respirator, failure to

weight loss

Werdnig-Hoffman disease

West disease

wheelchair

whistle, inability to

winging of scapula

workup

X-linked bulbospinal neuronopathy

Showing articles 0 to 43 of 43

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

Nusinersen in Adult Patients with Spinal Muscular Atrophy
Neurol 95:e413-e416, Moshe-Lilie, O.,et al, 2020

Nusinersen Versus Sham Control in Later-Onset Spinal Muscular Atrophy
NEJM 378:625-635, Mercuri, E.,et al, 2018

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
NEJM 377:1713-1722,1786, Mendell, J.R.,et al, 2017

Nusinersen Versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
NEJM 377:1723-1732,1786, Finkel, R.S.,et al, 2017

Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014

Degenerative Diseases of the Nervous System, Werdnig-Hoffman Disease, Spinal Muscular Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1116, Ropper, A.H.,et al, 2014

Degenerative Diseases of the Nervous System, Kugelberg-Welander Syndrome SMAIII
Adams & Victors Principles of Neurology, Chp 39, pg 1118, Ropper, A.H.,et al, 2014

Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011

The Floppy Infant: Evaluation of Hypotonia
Pediatrics in Review 30:e66-e76, Peredo, D. & Hannibal M., 2009

Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008

Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999

MR Findings of Werdnig-Hoffmann Disease in Two Infants
AJNR 19:550-552, Hsu,C.,et al, 1998

From Enigmatic to Problematic:The New Molecular Genetics of Childhood Spinal Muscular Atrophy
Neurol 46:335-340, Crawford,T.O., 1996

Neurogenic Muscle Hypertrophy
Muscle & Nerve 19:811-818996., Gutmann,L., 1996

Motor Neuron Disease Presenting as Acute Respiratory Failure:A Clinical and Pathological Study
JNNP 60:455-458, Chen,R.,et al, 1996

Hypoglycaemia in Spinal Muscular Atrophy
Lancet 346:609-610, Bruce,A.K.,et al, 1995

Natural History in Proximal Spinal Muscular Atrophy
Arch Neurol 52:518-523, Zerres,K.&Rudnik-Schoneborn,R., 1995

Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995

Clinicopath Conf
Progressive Muscular Atrophy, Case 36-1995, NEJM 333:1406-1412995., , 1995

Intestinal Pseudo-Obstruction in Adult Spinal Muscular Atrophy
Muscle & Nerve 17:946-948994., Ionasescu,V.,et al, 1994

Intrafamilial Heterogeneity in Hereditary Motor Neuron Disease
Neurol 42:1488-1492, Applebaum,J.S.,et al, 1992

Werdnig-Hoffman Disease & Chronic Distal Spinal Muscular Atrophy with Apparent Autosomal Dom Inherit
Ann Neurol 32:404-407, Boylan,K.B.&Cornblath,D.R., 1992

Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
Medicine 70:99-117, Gatti,R.A.,et al, 1991

Mapping of Acute (Type 1) Spinal Muscular Atrophy to Chromosome 5q12-q14
Lancet 336:271-273, Melki,J.,et al, 1990

Spinal Muscular Atrophies
Editorial, Lancet 336:280-2811990., , 1990

Phenotypic Heterogeneity of Spinal Muscular Atrophy Mapping to Chromosome 5q11. 2-12. 3 (SMA5q)
Neurol 40:1831-1836, Munsat,T.L.,et al, 1990

DNA Restriction Fragment Length Polymorphisms in Diff Dx of Genetic Disease:Appl in Neuromusc Dis
Hum Genet 82:55-58, Defesche,J.C.,et al, 1989

Facioscapulohumeral Muscular Dystrophy, in Neuromuscular Disease
Springer-Verlag, NY, p289988., Swash,M.&Schwartz,M.S., 1988

Location of the Gene for X-Linked Spinal Muscular Atrophy
Neurol 36:1595-1598, Fischbeck,K.H.,et al, 1986

Neurodegenerative Disease of Infancy & Childhood
Ann Neurol 13:351-364, Dyken,P.,et al, 1983

Preservation of the Phrenic Motorneurons in Werdnig-Hoffman Disease
Ann Neurol 9:506-510, Kuzuhara,S.,et al, 1981

Vitamin E Deficiency in Werdnig-Hoffmann Disease
Ann Neurol 10:266-268, Shapira,Y.,et al, 1981

Use of the ECG in the Diagnosis of Childhood Spinal Muscular Atrophy
Arch Neurol 36:317-318, Russman,B.S.,et al, 1979

Distal Chronic Spinal Muscular Atrophy Involving the Hands
JNNP 41:653-658, O'Sullivan,D.J.,et al, 1978

Sparing of the Onufrowicz Nucleus in Sacral Anterior Horn Lesions
Ann Neurol 4:245-249, Iwata,M.,et al, 1978

Epidemiology of Motor-Neuron Diseases
NEJM 288:1047, Bobwick,A.R.,et al, 1973

Infantile Spinal Muscular Atrophy
Arch Neurol 25:276, Wilkins,R.,et al, 1971

Neurogenic Muscular Atrophy of Infancy with Prolonged Survival
Brain 92:9, Munsat,T.,et al, 1969

Chronic Spinal Muscular Atrophy in Adults
J Neurol Sci 9:527, Meadows,J.C.,et al, 1969

Chronic Spinal Muscular Atrophy in Adults
J Neurol Sci 9:551, Meadows,J.C.,et al, 1969

Diseases of Muscles-Clinical Manifestations & Differential Diagnosis
The New Physic 263, 1967, Oct., Boshes,L., 1967

Neuro CPC of MGH
Myopathy, Severe, Generalized, Chronic, NEJM 258:388-3938., , 1958

Showing articles 0 to 43 of 43